Variant #0000126785 (NC_000011.9:g.22257595T>G, ANO5(NM_213599.2):c.649-114T>G)

Chromosome 11
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.22257595T>G
DNA change (hg38) g.22236049T>G
Published as -
ISCN -
DB-ID ANO5_000012
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs11820954
Origin Germline
Segregation -
Frequency 0-0.55
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ANO5 NM_213599.2 ?/. 7i c.649-114T>G r.(=) p.(=)