Variant #0000325566 (NC_000017.10:g.66914319A>G, ABCA8(NM_007168.2):c.1796T>C)

Chromosome 17
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.66914319A>G
DNA change (hg38) g.68918178A>G
Published as ABCA8(NM_007168.2):c.1796T>C (p.(Leu599Pro))
ISCN -
DB-ID ABCA8_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) 1.0E-5 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     
ABCA8 NM_007168.2 ?/. - c.1796T>C r.(?) p.(Leu599Pro)