chr15:73323176:C>T Detail (hg38) (HCN4)

Information

Genome

Assembly Position
hg19 chr15:73,615,517-73,615,517 View the variant detail on this assembly version.
hg38 chr15:73,323,176-73,323,176

HGVS

Type Transcript Protein
RefSeq NM_005477.2:c.2917G>A NP_005468.1:p.Gly973Arg
Ensemble ENST00000261917.4:c.2917G>A ENST00000261917.4:p.Gly973Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 605206 OMIM
HGNC 16882 HGNC
Ensembl ENSG00000138622 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53506286 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-12-31 criteria provided, single submitter Brugada syndrome 8 germline Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Brugada syndrome 8,Sick sinus syndrome 2, autosomal dominant unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Brugada syndrome 8,Sick sinus syndrome 2, autosomal dominant unknown Detail
Uncertain significance 2022-05-11 criteria provided, single submitter not provided germline Detail
Uncertain significance 2017-06-30 criteria provided, single submitter Sick sinus syndrome 2, autosomal dominant germline Detail
Uncertain significance 2023-04-03 criteria provided, single submitter germline Detail
Uncertain significance 2024-02-28 criteria provided, single submitter HCN4-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_005477.3(HCN4):c.2917G>A (p.Gly973Arg) AND Brugada syndrome 8 ClinVar Detail
NM_005477.3(HCN4):c.2917G>A (p.Gly973Arg) AND multiple conditions ClinVar Detail
NM_005477.3(HCN4):c.2917G>A (p.Gly973Arg) AND multiple conditions ClinVar Detail
NM_005477.3(HCN4):c.2917G>A (p.Gly973Arg) AND not provided ClinVar Detail
NM_005477.3(HCN4):c.2917G>A (p.Gly973Arg) AND Sick sinus syndrome 2, autosomal dominant ClinVar Detail
NM_005477.3(HCN4):c.2917G>A (p.Gly973Arg) AND Cardiovascular phenotype ClinVar Detail
NM_005477.3(HCN4):c.2917G>A (p.Gly973Arg) AND HCN4-related disorder ClinVar 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
rs200495478 dbSNP
Genome
hg38
Position
chr15:73,323,176-73,323,176
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs200495478
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0002
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
5070
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)
54712
Allele Counts in All Race (ExAC)
8
Heterozygous Counts in All Race (ExAC)
8
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.4622020763269483E-4
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