chr4:104068584:T>C Detail (hg19) (CENPE)

Information

Genome

Assembly Position
hg19 chr4:104,068,584-104,068,584
hg38 chr4:103,147,427-103,147,427 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001813.2:c.4063A>G NP_001804.2:p.Lys1355Glu
NM_001286734.1:c.3988A>G NP_001273663.1:p.Lys1330Glu
Ensemble ENST00000265148.9:c.4063A>G ENST00000265148.9:p.Lys1355Glu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 117143 OMIM
HGNC 1856 HGNC
Ensembl ENSG00000138778 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-08-01 no assertion criteria provided Microcephaly 13, primary, autosomal recessive germline Detail
Uncertain significance 2022-07-15 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Microcephaly 13, primary, autosomal recessive Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcep... UNIPROT 24748105 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001813.3(CENPE):c.4063A>G (p.Lys1355Glu) AND Microcephaly 13, primary, autosomal recessive ClinVar Detail
NM_001813.3(CENPE):c.4063A>G (p.Lys1355Glu) AND not provided ClinVar Detail
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwa... 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
rs141488085 dbSNP
Genome
hg19
Position
chr4:104,068,584-104,068,584
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8644
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121350
Allele Counts in All Race (ExAC)
28
Heterozygous Counts in All Race (ExAC)
28
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.3073753605274002E-4
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