Variant #0000694690 (NC_000011.9:g.(?_22214722)_(22249133_22257708)del, ANO5(NM_213599.2):c.-317_(648+1_649-1)del)

Individual ID 00311807
Chromosome 11
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_22214722)_(22249133_22257708)del
DNA change (hg38) g.(?_22193176)_(22227587_22236162)del
Published as del ex1-7
ISCN -
DB-ID ANO5_000267
Variant remarks -
Reference PubMed: Vazquez 2020
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_7i c.-317_(648+1_649-1)del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000312979 DNA SEQ - - - 1 Johan den Dunnen