Genomic variant #0000079264

Individual ID 00050339
Chromosome 16
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.48221232G>C
DNA change (hg38) g.48187321G>C
Published as -
ISCN -
DB-ID ABCC11_000004
Variant remarks association variant/phenotype uncertain
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00138 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 ./. - c.2813C>G - r.(?) p.(Ser938*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050284 DNA SEQ;SEQ-NG-I - - ABCC11 2 Johan den Dunnen