Variant #0000373752 (NC_000009.11:g.75265059C>T, TMC1(NM_138691.2):c.16+1479C>T)

Individual ID 00167020
Chromosome 9
Allele Paternal (inferred)
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.75265059C>T
DNA change (hg38) g.72650143C>T
Published as -
ISCN -
DB-ID TMC1_000035 See all 2 reported entries
Variant remarks homozygous; Neutral
Reference PubMed: Ben Saïd 2010
ClinVar ID -
dbSNP ID rs12553768
Origin Germline
Segregation -
Frequency -
Re-site +HphI
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Anne-Françoise Roux
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anne-Françoise Roux
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
TMC1 NM_138691.2 -/- 5i c.16+1479C>T r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000167899 DNA SEQ - - - 10 Anne-Françoise Roux