Variant #0000915067 (NC_000018.9:g.43532569C>A, NM_020964.2:c.1049G>T (EPG5))

Chromosome 18
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.43532569C>A
DNA change (hg38) -
Published as EPG5(NM_020964.3):c.1049G>T (p.R350L)
ISCN -
DB-ID EPG5_000191
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) 2.0E-5 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2023-01-11 15:44:22 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPG5 NM_020964.2 ?/. - c.1049G>T r.(?) p.(Arg350Leu)


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