Variant #0000126780 (NC_000011.9:g.22240056G>A, ANO5(NM_213599.2):c.180+223G>A)

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.22240056G>A
DNA change (hg38) g.22218510G>A
Published as -
ISCN -
DB-ID ANO5_000008
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs4620717
Origin Germline
Segregation -
Frequency 0.02-0.47
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 ?/. 4i c.180+223G>A r.(=) p.(=)