Variant #0000352660 (NC_000022.10:g.33700420C>T, LARGE(NM_004737.4):c.1525G>A)

Individual ID 00152609
Chromosome 22
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.33700420C>T
DNA change (hg38) g.33304434C>T
Published as -
ISCN -
DB-ID LARGE_000001 See all 3 reported entries
Variant remarks -
Reference PubMed: Longman 2003, OMIM:var0001
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-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 +/. 13 c.1525G>A r.(?) p.(Glu509Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153467 DNA SEQ - - LARGE 2 Johan den Dunnen