chr19:49196760:G>T Detail (hg38) (TRPM4)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr19:49,700,017-49,700,017 View the variant detail on this assembly version. |
hg38 | chr19:49,196,760-49,196,760 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001321281.1:c.2531G>T | NP_001308210.1:p.Gly844Val |
NM_001321282.1:c.2531G>T | NP_001308211.1:p.Gly844Val | |
NM_001321283.1:c.2531G>T | NP_001308212.1:p.Gly844Val |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
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
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-09-08 | criteria provided, single submitter | progressive familial heart block type IB |
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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 |
0.360 | Progressive Familial Heart Block, Type Ib | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_017636.4(TRPM4):c.2531G>T (p.Gly844Val) AND Progressive familial heart block type IB | ClinVar | Detail |
Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac cond... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- Genome
- hg38
- Position
- chr19:49,196,760-49,196,760
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 764
- 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)
- 19480
- 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)
- 1.540041067761807E-4
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