Variant #0000667624 (NC_000017.10:g.67249934C>G, ABCA5(NM_018672.3):c.4320+1G>C)

Individual ID 00303069
Chromosome 17
Allele Both (homozygous)
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.67249934C>G
DNA change (hg38) g.69253793C>G
Published as -
ISCN -
DB-ID ABCA5_000006
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCA5 NM_018672.3 ?/. - c.4320+1G>C r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000304194 DNA SEQ-NG - WES ABCA5, DGKZ 2 Johan den Dunnen