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 |
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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 |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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Centenarian |
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MGS000068
(TMGS000140) |
Kenjiro Kosaki | Keio University |
ClinVar
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
Descrption | Source | Links |
---|---|---|
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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