Genomic variant #0000171154

Individual ID 00105227
Chromosome 16
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.48201500_48201526del
DNA change (hg38) g.48167589_48167615del
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

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