Variant #0000763209 (NC_000022.10:g.33679273C>T, LARGE(NM_004737.4):c.1792G>A)

Individual ID 00361607
Chromosome 22
Allele Both (homozygous)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.33679273C>T
DNA change (hg38) g.33283287C>T
Published as -
ISCN -
DB-ID LARGE_000096
Variant remarks ACMG PM1, PM2, PP1, PP3
Reference PubMed: Anazi 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LARGE NM_004737.4 +?/. - c.1792G>A r.(?) p.(Glu598Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000362835 DNA SEQ-NG - 758-gene panel LARGE 1 Johan den Dunnen