Genomic variant #0000126566

Individual ID 00078809
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.22281195C>T
DNA change (hg38) g.22259649C>T
Published as -
ISCN -
DB-ID ANO5_000043 See all 6 reported entries
Variant remarks not in 400 control chromosomes
Reference PubMed: Marconi 2012
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 +/. 15 c.1538C>T r.(?) p.(Thr513Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000078997 DNA SEQ - - ANO5 1 Johan den Dunnen