Variant #0000352628 (NC_000022.10:g.33700462A>G, LARGE(NM_004737.4):c.1483T>C)

Individual ID 00152633
Chromosome 22
Allele Both (homozygous)
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.33700462A>G
DNA change (hg38) g.33304476A>G
Published as -
ISCN -
DB-ID LARGE_000027 See all 2 reported entries
Variant remarks -
Reference PubMed: Mercuri 2009, OMIM:var0004
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.1483T>C r.(?) p.(Trp495Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153491 DNA SEQ - - LARGE 1 Johan den Dunnen