Variant #0000543515 (NC_000011.9:g.22257740G>C, ANO5(NM_213599.2):c.680G>C)

Chromosome 11
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.22257740G>C
DNA change (hg38) g.22236194G>C
Published as ANO5(NM_001142649.1):c.677G>C (p.(Gly226Ala))
ISCN -
DB-ID ANO5_000240
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00073 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ANO5 NM_213599.2 -?/. - c.680G>C r.(?) p.(Gly227Ala)