Variant #0000352614 (NC_000022.10:g.34000484C>T, LARGE(NM_004737.4):c.552G>A)

Individual ID 00152623
Chromosome 22
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.34000484C>T
DNA change (hg38) g.33604498C>T
Published as -
ISCN -
DB-ID LARGE_000015
Variant remarks other disease-associated change in several patients
Reference PubMed: Godfrey 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.002 View details
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 -/. 6 c.552G>A r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153481 DNA SEQ - - LARGE 1 Johan den Dunnen