Variant #0000373680 (NC_000009.11:g.75303653C>T, TMC1(NM_138691.2):c.45C>T)

Individual ID 00166971
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.75303653C>T
DNA change (hg38) g.72688737C>T
Published as -
ISCN -
DB-ID TMC1_000015 See all 10 reported entries
Variant remarks homozygous; reported in linkage disequilibrium with c.100C>T
Reference PubMed: Kitajiri 2007
ClinVar ID -
dbSNP ID rs2589615
Origin Germline
Segregation -
Frequency 68/154 controls
Re-site -BbsI
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.44944 View details
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 -/- 6 c.45C>T r.(?) p.(=) Cytoplasmic 1 (1-199);Highly Charged (4-178)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000167850 DNA SEQ - - - 4 Anne-Françoise Roux