Variant #0000434980 (NC_000001.10:g.100361925G>A, AGL(NM_000642.2):c.3343G>A)

Individual ID 00204562
Chromosome 1
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.100361925G>A
DNA change (hg38) g.99896369G>A
Published as -
ISCN -
DB-ID AGL_000009
Variant remarks -
Reference PubMed: Shaiu 2000
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.07315 View details
Owner LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGL NM_000642.2 +/? 25 c.3343G>A r.(?) p.(Gly1115Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000205591 DNA SEQ - - AGL 1 LOVD