Variant #0000352622 (NC_000022.10:g.33700397G>C, LARGE(NM_004737.4):c.1548C>G)

Individual ID 00152624
Chromosome 22
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.33700397G>C
DNA change (hg38) g.33304411G>C
Published as -
ISCN -
DB-ID LARGE_000017
Variant remarks -
Reference PubMed: Godfrey 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
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     
LARGE NM_004737.4 +/. 13 c.1548C>G r.(?) p.(Trp516*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153482 DNA SEQ - - LARGE 2 Johan den Dunnen