Genomic variant #0000126762

Individual ID 00078739
Chromosome 11
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.22277031C>G
DNA change (hg38) g.22255485C>G
Published as -
ISCN -
DB-ID ANO5_000003 See all 18 reported entries
Variant remarks shared 3.6 Mb haplotype; not in 372 control chromosomes
Reference PubMed: Bolduc 2010, OMIM:var0003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ANO5 NM_213599.2 +/. 13 c.1295C>G r.1295_1332del p.Ala432Glyfs*49



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000078927 DNA;RNA RT-PCR;SEQ - - ANO5 2 Johan den Dunnen