Variant #0000328110 (NC_000002.11:g.220085847T>C, ABCB6(NM_005689.2):c.-2452A>G)

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.220085847T>C
DNA change (hg38) g.219221125T>C
Published as ATG9A(NM_001077198.1):c.2323A>G (p.(Thr775Ala))
ISCN -
DB-ID ATG9A_000001
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) 0.00121 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.-2452A>G r.(?) p.(=)
ATG9A NM_024085.3 ?/. - c.2323A>G r.(?) p.(Thr775Ala)