Genomic variant #0000126573

Individual ID 00078816
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.22239808A>G
DNA change (hg38) g.22218262A>G
Published as N52K
ISCN -
DB-ID ANO5_000048 See all 10 reported entries
Variant remarks -
Reference PubMed: Wahbi 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00254 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ANO5 NM_213599.2 +/. 4 c.155A>G r.(?) p.(Asn52Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000079004 DNA SEQ - - ANO5 2 Johan den Dunnen