Variant #0001745952 (NC_000012.11:g.53714496A>G, NC_000012.11(NM_001173466.1):c.124-20T>C (AAAS))

Individual ID 00000059
Chromosome 12
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.53714496A>G
Reference -
DB-ID AAAS_000010 See all 31 reported entries
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.98196 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-25 04:14:57 +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     
AAAS NM_001173466.1 ./. - c.124-20T>C 124 r.(=) p.(=) - intron 20
AAAS NM_015665.5 ./. - c.124-20T>C 124 r.(=) p.(=) - intron 20



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000071 DNA SEQ-NG - - 51302 LOVD