Variant #0000126508 (NC_000011.9:g.22242653dup, ANO5(NM_213599.2):c.191dup)

Individual ID 00078751
Chromosome 11
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.22242653dup
DNA change (hg38) g.22221107dup
Published as -
ISCN -
DB-ID ANO5_000004 See all 160 reported entries
Variant remarks shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}
Reference PubMed: Hicks 2011
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ANO5 NM_213599.2 +/. 5 c.191dup r.(?) p.(Asn64Lysfs*15)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000078939 DNA SEQ - - ANO5 2 Johan den Dunnen