Variant #0000514694 (NC_000002.11:g.220081525C>T, ABCB6(NM_005689.2):c.717G>A)

Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.220081525C>T
DNA change (hg38) g.219216803C>T
Published as ABCB6(NM_005689.4):c.717G>A (p.W239*)
ISCN -
DB-ID ABCB6_000028 See all 2 reported entries
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) 0.00016 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCB6 NM_005689.2 +/. - c.717G>A r.(?) p.(Trp239Ter)
ATG9A NM_024085.3 +/. - c.*3644G>A r.(=) p.(=)