Variant #0000126634 (NC_000011.9:g.22247587del, ANO5(NM_213599.2):c.352del)

Individual ID 00078877
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.22247587del
DNA change (hg38) g.22226041del
Published as -
ISCN -
DB-ID ANO5_000075
Variant remarks -
Reference PubMed: Punetha 2016
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Jaya Punetha
Database submission license No license selected
Created by Jaya Punetha
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ANO5 NM_213599.2 +?/. 6 c.352del r.(?) p.(Glu118Lysfs*23)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079065 DNA SEQ;SEQ-NG-I - - ANO5 1 Jaya Punetha