Genomic variant #0000171154

Individual ID 00105227
Chromosome 16
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.48201498_48201524del
DNA change (hg38) g.48167587_48167613del
Published as 3939–3965del27
ISCN -
DB-ID ABCC11_000002 See all 6 reported entries
Variant remarks -
Reference PubMed: Yoshiura 2006, OMIM:var0001
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/126 individuals
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ABCC11 NM_032583.3 +/+ 27 c.3939_3965del - r.(?) p.(Asp1303_Arg1320del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000105697 DNA SEQ - - ABCC11 1 Johan den Dunnen