LOVD - Variant listings for DNAJB6

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7 entries
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Exon Hide Exon column Descending

DNA change   Descending

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RNA change Hide RNA change column Descending

Protein change Hide Protein change column Descending

DB-ID Hide DB-ID column Descending

Variant remarks Hide Variant remarks column Descending

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1_10 c.=
  (Reported 19 times)
- r.= p.= DNAJB6_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - -
5 c.?
  (Reported 3 times)
- r.? p.Phe93Gly DNAJB6_00000 mRNA infection expression in zebrafish embryos; loss of function from DNAJB6b - Sarparanta 2012 DNA SEQ - -
5 c.265T>A
  (Reported 8 times)
267T>A r.267u>a p.Phe89Ile DNAJB6_00002 mapped by linkage; not in 430 control chromosomes; segregates; variant 267T>A error (see FigS2c) germline (inherited) Sarparanta 2012 DNA, RNA RT-PCR, SEQ - -
5 c.277T>C
  (Reported 6 times)
- r.(?) p.(Phe93Leu) DNAJB6_00004 not in 208 control chromosomes; segregates germline (inherited) Sarparanta 2012 DNA SEQ - -
5 c.279C>A - r.(?) p.(Phe93Leu) DNAJB6_00003 not in 208 control chromosomes; segregates germline (inherited) Sarparanta 2012 DNA SEQ - -
5 c.279C>G
  (Reported 10 times)
- r.279c>g p.Phe93Leu DNAJB6_00001 mapped by linkage; not in 404 control chromosomes; segregates germline (inherited) Sarparanta 2012 DNA, RNA RT-PCR, SEQ - -
5 c.287C>G
  (Reported 3 times)
- r.(?) p.(Pro96Arg) DNAJB6_00005 segregates; not in 1081 African-America control exomes germline (inherited) Harms 2012 DNA SEQ, SEQ-NG-I - -
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NOTE: the information displayed is only part of the data present in the databases, e.g. the database contains much more phenotype data. In addition some records might still be under review, such non-public variants CAN be found querying the "DNA_change" field. Most other non-public data can be queried as well, returning the number of records fulfilling the search criteria (without showing the actual records). For more information, please contact the curator(s).

Legend: [ DNAJB6 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.
Exon: number of exon/intron containing variant DNA change: DNA change Var_pub_as: Var_pub_as RNA change: RNA change Protein change: Protein change DNAJB6 DB-ID: DB-ID Variant remarks: Variant remarks Genet_ori: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) Reference: publication describing the variant submitted, incl. links to OMIM and dbSNP (when available) Template: Template Technique: Technique Frequency: Frequency RE-site: RE-site