Variant #0000126628 (NC_000011.9:g.22242745G>A, ANO5(NM_213599.2):c.283G>A)

Individual ID 00078871
Chromosome 11
Allele Parent #1
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.22242745G>A
DNA change (hg38) g.22221199G>A
Published as Glu95Lys
ISCN -
DB-ID ANO5_000070
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
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 -?/. 5 c.283G>A r.(?) p.(Glu95Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079059 DNA SEQ - - ANO5 1 Johan den Dunnen