Genomic variant #0000126520

Individual ID 00078763
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.22242653dup
DNA change (hg38) g.22221107dup
Published as -
ISCN -
DB-ID ANO5_000004 See all 113 reported entries
Variant remarks shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951}
Reference PubMed: Hicks 2011
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 +/. 5 c.191dup r.(?) p.(Asn64Lysfs*15)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000078951 DNA SEQ - - ANO5 2 Johan den Dunnen