Variant #0000373577 (NC_000009.11:g.75309494C>T, TMC1(NM_138691.2):c.100C>T)

Individual ID 00166972
Chromosome 9
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.75309494C>T
DNA change (hg38) g.72694578C>T
Published as -
ISCN -
DB-ID TMC1_000004 See all 69 reported entries
Variant remarks homozygous; Pathogenic
Reference PubMed: Kitajiri 2007
ClinVar ID -
dbSNP ID rs121908073
Origin Germline
Segregation -
Frequency 0/772 controls
Re-site -MnlI;-TaqI
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 7.0E-5 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 +/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000167851 DNA SEQ - - - 4 Anne-Françoise Roux