Variant #0000373757 (NC_000009.11:g.75309143G>A, TMC1(NM_138691.2):c.65-316G>A)

Individual ID 00167019
Chromosome 9
Allele Maternal (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.75309143G>A
DNA change (hg38) g.72694227G>A
Published as -
ISCN -
DB-ID TMC1_000036 See all 6 reported entries
Variant remarks homozygous; Neutral
Reference PubMed: Ben Saïd 2010
ClinVar ID -
dbSNP ID rs1663742
Origin Germline
Segregation -
Frequency -
Re-site +BspHI;+Hpy188III
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Anne-Françoise Roux
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anne-Françoise Roux
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
TMC1 NM_138691.2 -/- 6i c.65-316G>A r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000167898 DNA SEQ - - - 6 Anne-Françoise Roux