Variant #0000811201 (NC_000009.11:g.75231331A>C, TMC1(NM_138691.2):c.-258A>C)

Individual ID 00383282
Chromosome 9
Allele Both (homozygous)
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
Classification method ACMG
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.75231331A>C
DNA change (hg38) g.72616415A>C
Published as -
ISCN -
DB-ID TMC1_000003 See all 11 reported entries
Variant remarks Marker associated to the c.627C>T splicing alteration
Reference Vaché et al., submitted
ClinVar ID -
dbSNP ID rs937270834
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner David Baux
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by David Baux
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
TMC1 NM_138691.2 -/- 1 c.-258A>C r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000384506 DNA SEQ;SEQ-NG-I blood - - 2 David Baux