chr15:73325378:C>T Detail (hg38) (HCN4)

Information

Genome

Assembly Position
hg19 chr15:73,617,719-73,617,719 View the variant detail on this assembly version.
hg38 chr15:73,325,378-73,325,378

HGVS

Type Transcript Protein
RefSeq NM_005477.2:c.1657G>A NP_005468.1:p.Asp553Asn
Ensemble ENST00000261917.4:c.1657G>A ENST00000261917.4:p.Asp553Asn
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.001
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 tgv53506676 TogoVar
COSMIC COSM1937647 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2017-05-01 criteria provided, single submitter Sick sinus syndrome 2, autosomal dominant germline Detail
Uncertain significance 2022-04-06 criteria provided, single submitter Brugada syndrome 8 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Sick sinus syndrome 2, autosomal dominant Functional characterization of a trafficking-defective HCN4 mutation, D553N, ass... UNIPROT 15123648 Detail
0.360 Sick sinus syndrome 2, autosomal dominant NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005477.3(HCN4):c.1657G>A (p.Asp553Asn) AND Sick sinus syndrome 2, autosomal dominant ClinVar Detail
NM_005477.3(HCN4):c.1657G>A (p.Asp553Asn) AND Brugada syndrome 8 ClinVar Detail
Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac... DisGeNET 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
rs104894485 dbSNP
Genome
hg38
Position
chr15:73,325,378-73,325,378
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1173
Mean of sample read depth (HGVD)
35.59
Standard deviation of sample read depth (HGVD)
18.97
Number of reference allele (HGVD)
2343
Number of alternative allele (HGVD)
3
Allele Frequency (HGVD)
0.0012787723785166241
Gene Symbol (HGVD)
HCN4
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))
rs104894485
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0007
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8652
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)
121382
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.471536142096851E-5
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