Variant #0000618567 (NC_000022.10:g.33712102C>T, LARGE(NM_004737.4):c.1420G>A)

Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.33712102C>T
DNA change (hg38) g.33316116C>T
Published as LARGE(NM_004737.4):c.1420G>A (p.(Val474Ile)), LARGE1(NM_004737.5):c.1420G>A (p.V474I), LARGE1(NM_004737.6):c.1420G>A (p.V474I)
ISCN -
DB-ID LARGE_000058 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00085 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LARGE NM_004737.4 ?/. - c.1420G>A r.(?) p.(Val474Ile)