Variant #0000696968 (NC_000011.9:g.22239808A>G, ANO5(NM_213599.2):c.155A>G)

Individual ID 00313796
Chromosome 11
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.22239808A>G
DNA change (hg38) g.22218262A>G
Published as -
ISCN -
DB-ID ANO5_000048 See all 12 reported entries
Variant remarks -
Reference PubMed: Ten Dam 2019
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00213 View details
Owner Ieke Ginjaar
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.155A>G r.(?) p.(Asn52Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000314968 DNA SEQ - - ANO5 2 Ieke Ginjaar