chr18:43505847:C>A Detail (hg19) (EPG5)

Information

Genome

Assembly Position
hg19 chr18:43,505,847-43,505,847
hg38 chr18:45,925,881-45,925,881 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020964.2:c.2575G>T NP_066015.2:p.Glu859Ter
Ensemble ENST00000282041.11:c.2575G>T ENST00000282041.11:p.Glu859Ter
ENST00000696483.1:c.2575G>T ENST00000696483.1:p.Glu859Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 615068 OMIM
HGNC 29331 HGNC
Ensembl ENSG00000152223 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM988457 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-01-17 criteria provided, single submitter Vici syndrome germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.481 Absent corpus callosum cataract immunodeficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_020964.3(EPG5):c.2575G>T (p.Glu859Ter) AND Vici syndrome ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587776941 dbSNP
Genome
hg19
Position
chr18:43,505,847-43,505,847
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser