Variant #0000922179 (NC_000001.10:g.12779402A>T, NC_000001.10(NM_001103170.1):c.-3-75A>T (AADACL3))

Individual ID 00000043
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.12779402A>T
Reference -
DB-ID AADACL3_000007
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-24 20:41:05 +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     
AADACL3 NM_001103170.1 ./. - c.-3-75A>T -3 r.(=) p.(=) - intron 75



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000055 DNA SEQ-NG - - 51323 LOVD