Variant #0000373747 (NC_000009.11:g.75303674T>A, TMC1(NM_138691.2):c.64+2T>A)

Individual ID 00167017
Chromosome 9
Allele Paternal (inferred)
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.75303674T>A
DNA change (hg38) g.72688758T>A
Published as IVS6+2T>A
ISCN -
DB-ID TMC1_000033 See all 5 reported entries
Variant remarks homozygous; Pathogenic
Reference PubMed: Sirmaci 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site +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.64+2T>A r.(?) p.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000167896 DNA SEQ - - - 2 Anne-Françoise Roux