Variant #0000352626 (NC_000022.10:g.?, LARGE(NM_004737.4):c.?)

Individual ID 00152632
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.?
DNA change (hg38) -
Published as Gln87fsX
ISCN -
DB-ID LARGE_000000 See all 50 reported entries
Variant remarks variant not described, maybe c.259delC
Reference PubMed: Clement 2008, OMIM:var0005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LARGE NM_004737.4 +/. 5 c.? r.(?) p.(Gln87fs*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153490 DNA SEQ - - LARGE 2 Johan den Dunnen