chr4:5785442:G>A Detail (hg19) (EVC)

Information

Genome

Assembly Position
hg19 chr4:5,785,442-5,785,442
hg38 chr4:5,783,715-5,783,715 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001306090.1:c.1727G>A NP_001293019.1:p.Arg576Gln
NM_153717.2:c.1727G>A NP_714928.1:p.Arg576Gln
Ensemble ENST00000264956.11:c.1727G>A ENST00000264956.11:p.Arg576Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.314
ToMMo:0.299
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.318

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 604831 OMIM
HGNC 3497 HGNC
Ensembl ENSG00000072840 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv15942311 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2016-03-03 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2021-07-30 criteria provided, multiple submitters, no conflicts Ellis-Van Creveld syndrome germline Detail
Benign 2024-02-01 criteria provided, single submitter Ellis-Van Creveld syndrome,Curry-Hall syndrome germline Detail
Benign 2024-02-01 criteria provided, single submitter Ellis-Van Creveld syndrome,Curry-Hall syndrome germline Detail
Benign 2021-07-30 criteria provided, single submitter Curry-Hall syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Completed Suicide The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs36... BeFree 19115052 Detail
<0.001 Completed Suicide The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs36... BeFree 19115052 Detail
<0.001 Completed Suicide The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs36... BeFree 19115052 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) AND not specified ClinVar Detail
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) AND Ellis-van Creveld syndrome ClinVar Detail
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) AND multiple conditions ClinVar Detail
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) AND multiple conditions ClinVar Detail
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) AND Curry-Hall syndrome ClinVar Detail
The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs362272 in HTT gene, an... DisGeNET Detail
The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs362272 in HTT gene, an... DisGeNET Detail
The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs362272 in HTT gene, an... 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
rs1383180 dbSNP
Genome
hg19
Position
chr4:5,785,442-5,785,442
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1127
Mean of sample read depth (HGVD)
36.05
Standard deviation of sample read depth (HGVD)
17.96
Number of reference allele (HGVD)
1547
Number of alternative allele (HGVD)
707
Allele Frequency (HGVD)
0.3136645962732919
Gene Symbol (HGVD)
EVC
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1383180
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.299
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5012
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8240
East Asian Allele Counts (ExAC)
2617
East Asian Heterozygous Counts (ExAC)
1811
East Asian Homozygous Counts (ExAC)
403
East Asian Allele Frequency (ExAC)
0.3175970873786408
Chromosome Counts in All Race (ExAC)
117704
Allele Counts in All Race (ExAC)
40872
Heterozygous Counts in All Race (ExAC)
26371
Homozygous Counts in All Race (ExAC)
7250
Allele Frequency in All Race (ExAC)
0.34724393393597497
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