Variant #0000726638 (NC_000017.10:g.67257889C>T, ABCA5(NM_018672.3):c.3316G>A)

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.67257889C>T
DNA change (hg38) -
Published as ABCA5(NM_018672.4):c.3316G>A (p.V1106I)
ISCN -
DB-ID ABCA5_000010
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) 8.0E-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.3316G>A r.(?) p.(Val1106Ile)
ABCA10 NM_080282.3 -?/. - c.-17812G>A r.(?) p.(=)