Variant #0000697293 (NC_000011.9:g.22242682C>T, ANO5(NM_213599.2):c.220C>T)

Individual ID 00314031
Chromosome 11
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.22242682C>T
DNA change (hg38) g.22221136C>T
Published as -
ISCN -
DB-ID ANO5_000066 See all 3 reported entries
Variant remarks combination of variants not reported
Reference PubMed: Topf 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 2/1001 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 3.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ANO5 NM_213599.2 +?/. - c.220C>T r.(?) p.(Arg74*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000315204 DNA SEQ;SEQ-NG - WES ANO5 1 Johan den Dunnen