Variant #0000629480 (NC_000011.9:g.22261187C>T, ANO5(NM_213599.2):c.835C>T)

Individual ID 00274310
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.22261187C>T
DNA change (hg38) g.22239641C>T
Published as -
ISCN -
DB-ID ANO5_000241 See all 2 reported entries
Variant remarks -
Reference PubMed: Reddy 2017
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 +/. - c.835C>T r.(?) p.(Arg279*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000275466 DNA SEQ;SEQ-NG - WES ANO5 2 Johan den Dunnen