Variant #0000694740 (NC_000011.9:g.(?_22044899)_(22462949_?)del, ANO5(NM_213599.2):c.-317_*3602{0})

Individual ID 00311845
Chromosome 11
Allele Parent #2
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.(?_22044899)_(22462949_?)del
DNA change (hg38) -
Published as minmal 22044899-22462949del
ISCN -
DB-ID ANO5_000269
Variant remarks 418 kb deletion involving ANO5
Reference PubMed: Liewluck 2013
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 +/. _1_22_ c.-317_*3602{0} r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000313017 DNA SEQ - - ANO5 2 Johan den Dunnen