Variant #0000617165 (NC_000018.9:g.43514799C>T, NM_020964.2:c.2233G>A (EPG5))

Chromosome 18
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.43514799C>T
DNA change (hg38) g.45934833C>T
Published as EPG5(NM_020964.2):c.2233G>A (p.(Ala745Thr))
ISCN -
DB-ID EPG5_000117
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) 0.0002 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2019-12-04 15:24:38 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
EPG5 NM_020964.2 -?/. - c.2233G>A r.(?) p.(Ala745Thr)


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