Variant #0000681863 (NC_000022.10:g.33700483G>A, LARGE(NM_004737.4):c.1462C>T)

Chromosome 22
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.33700483G>A
DNA change (hg38) -
Published as LARGE1(NM_133642.4):c.1462C>T (p.L488=)
ISCN -
DB-ID LARGE_000094
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) 1.0E-5 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.1462C>T r.(?) p.(Leu488=)