Variant #0001732780 (NC_000009.11:g.139923408G>C, NM_001606.4:c.-816C>G (ABCA2))

Individual ID 00000058
Chromosome 9
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.139923408G>C
Reference -
DB-ID ABCA2_000044
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-25 03:45:26 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     
ABCA2 NM_001606.4 ./. - c.-816C>G -816 r.(=) p.(=) - utr-5 -
FUT7 NM_004479.3 ./. - c.*1754C>G 2783 r.(=) p.(=) - utr-3 -
C9orf139 NM_207511.1 ./. - c.-1067+1045G>C -1067 r.(=) p.(=) - intron 1045
ABCA2 NM_212533.2 ./. - c.-84C>G -84 r.(=) p.(=) - utr-5 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000070 DNA SEQ-NG - - 50954 LOVD