Variant #0000680994 (NC_000017.10:g.67286164A>G, ABCA5(NM_018672.3):c.1621T>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.67286164A>G
DNA change (hg38) -
Published as ABCA5(NM_018672.4):c.1621T>C (p.Y541H)
ISCN -
DB-ID ABCA5_000008
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) 1.0E-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     
ABCA5 NM_018672.3 ?/. - c.1621T>C r.(?) p.(Tyr541His)
ABCA10 NM_080282.3 ?/. - c.-46087T>C r.(?) p.(=)