Variant #0000373687 (NC_000009.11:g.75263581G>T, TMC1(NM_138691.2):c.16+1G>T)

Individual ID 00166973
Chromosome 9
Allele Paternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.75263581G>T
DNA change (hg38) g.72648665G>T
Published as IVS5+1G>T
ISCN -
DB-ID TMC1_000016 See all 2 reported entries
Variant remarks homozygous; Pathogenic
Reference PubMed: Kitajiri 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 0/338 controls
Re-site -BslI
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 +/+ 5i c.16+1G>T r.(?) p.(?) Cytoplasmic 3 (462-634)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000167852 DNA SEQ - - - 2 Anne-Françoise Roux