Variant #0000514688 (NC_000002.11:g.220077177G>A, ABCB6(NM_005689.2):c.1900C>T)

Chromosome 2
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.220077177G>A
DNA change (hg38) g.219212455G>A
Published as ABCB6(NM_005689.2):c.1900C>T (p.(Arg634Cys))
ISCN -
DB-ID ABCB6_000022
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) 4.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB6 NM_005689.2 ?/. - c.1900C>T r.(?) p.(Arg634Cys)
ZFAND2B NM_138802.2 ?/. - c.*3149G>A r.(=) p.(=)