Variant #0000352606 (NC_000022.10:g.33712033G>A, LARGE(NM_004737.4):c.1451+38C>T)

Individual ID 00152615
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.33712033G>A
DNA change (hg38) g.33316047G>A
Published as -
ISCN -
DB-ID LARGE_000007
Variant remarks found in one patient
Reference PubMed: Godfrey 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00168 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 -/. 12i c.1451+38C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000153473 DNA SEQ - - LARGE 1 Johan den Dunnen