Variant #0000858356 (NC_000002.11:g.220078392T>C, ABCB6(NM_005689.2):c.1579-4A>G)

Chromosome 2
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.220078392T>C
DNA change (hg38) -
Published as ABCB6(NM_005689.2):c.1579-4A>G
ISCN -
DB-ID ABCB6_000053
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) 2.0E-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     
ABCB6 NM_005689.2 -?/. - c.1579-4A>G r.spl? p.?
ZFAND2B NM_138802.2 -?/. - c.*4364T>C r.(=) p.(=)