Variant #0000257882 (NC_000011.9:g.22242729T>C, ANO5(NM_213599.2):c.267T>C)

Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.22242729T>C
DNA change (hg38) g.22221183T>C
Published as ANO5(NM_001142649.2):c.264T>C (p.D88=), ANO5(NM_213599.2):c.267T>C (p.D89=)
ISCN -
DB-ID ANO5_000007 See all 6 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.7661 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ANO5 NM_213599.2 -/. - c.267T>C r.(?) p.(Asp89=)