Variant #0000725478 (NC_000016.9:g.16208889G>A, ABCC1(NM_004996.3):c.3346G>A)

Chromosome 16
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.16208889G>A
DNA change (hg38) -
Published as ABCC1(NM_004996.3):c.3346G>A (p.A1116T)
ISCN -
DB-ID ABCC1_000012
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00146 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCC1 NM_004996.3 ?/. - c.3346G>A r.(?) p.(Ala1116Thr)