LOVD - Variant listings for CNTN1

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+/? 8 germline (inherited) c.871dupT
    + c.871dupT
- r.871dup p.Ser291Phefs*6 CNTN1_00001 mapped by linkage; not in 242 control chromosomes; CNTN1 expression 8-16x reduced Compton 2008, (OMIM 0001) DNA, RNA RT-PCR, SEQ - - CNCM 2nd/3rd trimester reduced fetal movement, complicated pregnancy with polyhydramnios/growth retardation; premature brith (28-35w); no spontaneous movements after birth Jones 2003, Australia:Sydney 5-generation family, 4 affecteds, 9 carriers Egypt - M sporadic, consanguineous parents (1st degree), sporadic, consanguineous par - - 1 - -
+/? 8 germline (inherited) c.871dupT
    + c.871dupT
- r.871dup p.Ser291Phefs*6 CNTN1_00001 mapped by linkage; not in 242 control chromosomes; CNTN1 expression 8-16x reduced Compton 2008, (OMIM 0001) DNA, RNA RT-PCR, SEQ - - CNCM 2nd/3rd trimester reduced fetal movement, complicated pregnancy with polyhydramnios/growth retardation; premature brith (28-35w); no spontaneous movements after birth Jones 2003, Australia:Sydney 5-generation family, 4 affecteds, 9 carriers Egypt - M sporadic, consanguineous parents (1st degree), sporadic, consanguineous par - - 1 - -
+/? 8 germline (inherited) c.871dupT
    + c.871dupT
- r.871dup p.Ser291Phefs*6 CNTN1_00001 mapped by linkage; not in 242 control chromosomes Compton 2008, (OMIM 0001) DNA, RNA RT-PCR, SEQ - - CNCM 2nd/3rd trimester reduced fetal movement, complicated pregnancy with polyhydramnios/growth retardation; premature brith (28-35w); no spontaneous movements after birth Jones 2003, Australia:Sydney brother of 19026398-V.2 Egypt - M sporadic, consanguineous parents (1st degree), sporadic, consanguineous par - - 1 - -
+/? 8 germline (inherited) c.871dupT
    + c.871dupT
- r.871dup p.Ser291Phefs*6 CNTN1_00001 mapped by linkage; not in 242 control chromosomes Compton 2008, (OMIM 0001) DNA, RNA RT-PCR, SEQ - - CNCM 2nd/3rd trimester reduced fetal movement, complicated pregnancy with polyhydramnios/growth retardation; premature brith (28-35w); no spontaneous movements after birth Jones 2003, Australia:Sydney brother of 19026398-V.2 Egypt - M sporadic, consanguineous parents (1st degree), sporadic, consanguineous par - - 1 - -
+/? 8 germline (inherited) c.871dupT
    + c.871dupT
- r.871dup p.Ser291Phefs*6 CNTN1_00001 mapped by linkage; not in 242 control chromosomes Compton 2008, (OMIM 0001) DNA, RNA RT-PCR, SEQ - - CNCM 2nd/3rd trimester reduced fetal movement, complicated pregnancy with polyhydramnios/growth retardation; premature brith (28-35w); no spontaneous movements after birth Jones 2003, Australia:Sydney sister of 19026398-V.2 Egypt - F sporadic, consanguineous parents (1st degree), sporadic, consanguineous par - - 1 - -
+/? 8 germline (inherited) c.871dupT
    + c.871dupT
- r.871dup p.Ser291Phefs*6 CNTN1_00001 mapped by linkage; not in 242 control chromosomes Compton 2008, (OMIM 0001) DNA, RNA RT-PCR, SEQ - - CNCM 2nd/3rd trimester reduced fetal movement, complicated pregnancy with polyhydramnios/growth retardation; premature brith (28-35w); no spontaneous movements after birth Jones 2003, Australia:Sydney sister of 19026398-V.2 Egypt - F sporadic, consanguineous parents (1st degree), sporadic, consanguineous par - - 1 - -
+/? 8 germline (inherited) c.871dupT
    + c.871dupT
- r.871dup p.Ser291Phefs*6 CNTN1_00001 mapped by linkage; not in 242 control chromosomes Compton 2008, (OMIM 0001) DNA, RNA RT-PCR, SEQ - - CNCM 2nd/3rd trimester reduced fetal movement, complicated pregnancy with polyhydramnios/growth retardation; premature brith (28-35w); birth-required intubation/ventilation, low weight, hypotonic (absent deep tendon reflexes), scaphocephaly, oval face, hypertelorism, high arched palate; died from respiratory failure Jones 2003, Australia:Sydney niece of 19026398-V.2 Egypt - F sporadic, consanguineous parents (1st degree), sporadic, consanguineous par - - 1 normal -
+/? 8 germline (inherited) c.871dupT
    + c.871dupT
- r.871dup p.Ser291Phefs*6 CNTN1_00001 mapped by linkage; not in 242 control chromosomes Compton 2008, (OMIM 0001) DNA, RNA RT-PCR, SEQ - - CNCM 2nd/3rd trimester reduced fetal movement, complicated pregnancy with polyhydramnios/growth retardation; premature brith (28-35w); birth-required intubation/ventilation, low weight, hypotonic (absent deep tendon reflexes), scaphocephaly, oval face, hypertelorism, high arched palate; died from respiratory failure Jones 2003, Australia:Sydney niece of 19026398-V.2 Egypt - F sporadic, consanguineous parents (1st degree), sporadic, consanguineous par - - 1 normal -
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Legend: [ CNTN1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant affecting function (pathogenicity), in the format Reported/Concluded; '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown. Exon: number of exon/intron containing variant Genet_ori: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) DNA change: DNA change Var_pub_as: Var_pub_as RNA change: RNA change Protein change: Protein change CNTN1 DB-ID: DB-ID Variant remarks: Variant remarks Reference: publication describing the variant submitted, incl. links to OMIM and dbSNP (when available) Template: Template Technique: Technique Frequency: Frequency RE-site: RE-site Phenotype: phenotype of the individual Phenotype additional: detailed phenotypic features of the individual Reference: publication describing the phenotype of the patient Remarks: Remarks Geographic origin: Geographic origin Ethnic origin: Ethnic origin of patient Gender: individual's gender; ? = unknown, - = not applicable, F = female, M = male, rF = raised as female, rM = raised as male Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Fam_Pat: number of families (total patients); 1 (3) = 1 family with 3 patients. Preferably there is 1 record for each independent family # reported: Number of times this case has been reported CK level: CK level Protein data: Protein data