Variant #0000256968 (NC_000002.11:g.220078143T>G, ABCB6(NM_005689.2):c.1719+18A>C)

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.220078143T>G
DNA change (hg38) g.219213421T>G
Published as ABCB6(NM_005689.2):c.1719+18A>C
ISCN -
DB-ID ABCB6_000009
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) 6.0E-5 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.1719+18A>C r.(=) p.(=)
ZFAND2B NM_138802.2 -/. - c.*4115T>G r.(=) p.(=)