Variant #0000518594 (NC_000003.11:g.183695381A>G, ABCC5(NM_005688.2):c.1328T>C)

Chromosome 3
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.183695381A>G
DNA change (hg38) g.183977593A>G
Published as ABCC5(NM_005688.3):c.1328T>C (p.M443T)
ISCN -
DB-ID ABCC5_000004
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCC5 NM_005688.2 ?/. - c.1328T>C r.(?) p.(Met443Thr)