Variant #0000558279 (NC_000016.9:g.48120711C>T, ABCC12(NM_033226.2):c.3655G>A)

Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.48120711C>T
DNA change (hg38) g.48086800C>T
Published as ABCC12(NM_033226.2):c.3655G>A (p.E1219K)
ISCN -
DB-ID ABCC12_000003
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) 3.0E-5 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     
ABCC12 NM_033226.2 -?/. - c.3655G>A r.(?) p.(Glu1219Lys)