LOVD - Variant listings for TPM1

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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4 entries
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Exon Hide Exon column Descending

DNA change   Descending

Var_pub_as Hide Var_pub_as column Descending

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

Genet_ori Hide Genet_ori column Descending

Reference Hide Reference column Descending

Template Hide Template column Descending

Technique Hide Technique column Descending

Frequency Hide Frequency column Descending

RE-site Hide RE-site column Descending
1_10 c.=
  (Reported 49 times)
- r.= p.= TPM1_00000 no variants 2nd chromosome germline (inherited) - DNA SEQ - -
4 c.453C>A
  (Reported 3 times)
- r.(?) p.(=) TPM1_00019 - germline (inherited) dbSNP-rs1071646 DNA SEQ 0.52-0.98 -
4 c.486T>C
  (Reported 2 times)
- r.(?) p.(=) TPM1_00020 - germline (inherited) dbSNP-rs11558747, dbSNP-rs28730801 DNA SEQ - -
5 c.549T>G 605T>G r.(?) p.(=) TPM1_00018 - germline (inherited) Thierfelder 1994 DNA SEQ 1/200 -
1 - 4

Legend: [ TPM1 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 TPM1 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