Variant #0000256971 (NC_000002.11:g.220075758C>T, ABCB6(NM_005689.2):c.2041G>A)

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.220075758C>T
DNA change (hg38) g.219211036C>T
Published as ABCB6(NM_005689.2):c.2041G>A (p.A681T)
ISCN -
DB-ID ABCB6_000005
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00025 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB6 NM_005689.2 ?/. - c.2041G>A r.(?) p.(Ala681Thr)
ZFAND2B NM_138802.2 ?/. - c.*1730C>T r.(=) p.(=)