chr19:49171597:A>G Detail (hg38) (TRPM4)

Information

Genome

Assembly Position
hg19 chr19:49,674,854-49,674,854 View the variant detail on this assembly version.
hg38 chr19:49,171,597-49,171,597

HGVS

Type Transcript Protein
RefSeq NM_001195227.1:c.878A>G NP_001182156.1:p.Gln293Arg
NM_001321281.1:c.878A>G NP_001308210.1:p.Gln293Arg
NM_001321282.1:c.878A>G NP_001308211.1:p.Gln293Arg
Summary

MGeND

Clinical significance Benign
Variant entry 1
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 Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 606936 OMIM
HGNC 17993 HGNC
Ensembl ENSG00000130529 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv62437631 TogoVar
COSMIC COSM5981579 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline MGS000068
(TMGS000140)
Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2024-01-09 criteria provided, multiple submitters, no conflicts progressive familial heart block type IB germline Detail
Likely benign 2020-04-14 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Progressive Familial Heart Block, Type Ib Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patien... UNIPROT 21887725 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_017636.4(TRPM4):c.878A>G (p.Gln293Arg) AND Progressive familial heart block type IB ClinVar Detail
NM_017636.4(TRPM4):c.878A>G (p.Gln293Arg) AND Cardiovascular phenotype ClinVar Detail
Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac cond... 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
rs172147855 dbSNP
Genome
hg38
Position
chr19:49,171,597-49,171,597
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs172147855
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)
8622
East Asian Allele Counts (ExAC)
9
East Asian Heterozygous Counts (ExAC)
9
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0010438413361169101
Chromosome Counts in All Race (ExAC)
119452
Allele Counts in All Race (ExAC)
21
Heterozygous Counts in All Race (ExAC)
21
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.7580283293707933E-4
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