Variant #0000154182 (NC_000001.10:g.100361877T>C, AGL(NM_000642.2):c.3295T>C)

Individual ID 00095197
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.100361877T>C
DNA change (hg38) g.99896321T>C
Published as -
ISCN -
DB-ID AGL_000021
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner François Petit
Database submission license No license selected
Created by François Petit
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AGL NM_000642.2 +?/. 25 c.3295T>C r.(3295u>c) p.(Trp1099Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000095595 DNA SEQ blood - AGL 1 François Petit