Genomic variant #0000171242

Individual ID 00105315
Chromosome 16
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.48258198C>T
DNA change (hg38) g.48224287C>T
Published as -
ISCN -
DB-ID ABCC11_000001 See all 108 reported entries
Variant remarks -
Reference PubMed: Yoshiura 2006, OMIM:var0001
ClinVar ID -
dbSNP ID rs17822931
Origin Germline
Segregation -
Frequency 34/50 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.098 View details
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ABCC11 NM_032583.3 +/+ 5 c.538G>A - r.(?) p.(Gly180Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105785 DNA SEQ - - ABCC11 1 Johan den Dunnen