Genomic variant #0000079250

Individual ID 00050353
Chromosome 16
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.48130781C>T
DNA change (hg38) g.48096870C>T
Published as -
ISCN -
DB-ID ABCC12_000002 See all 3 reported entries
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) 0.02292 View details
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCC12 NM_033226.2 ./. - c.3071G>A r.(?) p.(Trp1024*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050298 DNA SEQ;SEQ-NG-I - - ABCC12 2 Johan den Dunnen