Variant #0001806037 (NC_000017.10:g.67111065G>A, NM_080284.2:c.1620C>T (ABCA6))

Individual ID 00000060
Chromosome 17
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.67111065G>A
Reference -
DB-ID ABCA6_000026
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.00345 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-25 04:35:33 +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     
ABCA6 NM_080284.2 ./. - c.1620C>T 1620 r.(?) p.(=) - coding-synonymous -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000072 DNA SEQ-NG - - 51171 LOVD