Variant #0002109067 (NC_000017.10:g.67280184T>C, NM_172232.2:c.2302A>G (ABCA5))

Individual ID 00000066
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.67280184T>C
Reference -
DB-ID ABCA5_000026 See all 3 reported entries
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.00422 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-25 07:16:32 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     
ABCA5 NM_018672.3 ./. - c.2302A>G 2302 r.(?) p.(Asn768Asp) - missense -
ABCA5 NM_172232.2 ./. - c.2302A>G 2302 r.(?) p.(Asn768Asp) - missense -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000078 DNA SEQ-NG - - 51108 LOVD