chr19:49196760:G>A 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>A | NP_001308210.1:p.Gly844Asp |
| NM_001321282.1:c.2531G>A | NP_001308211.1:p.Gly844Asp | |
| NM_001321283.1:c.2531G>A | NP_001308212.1:p.Gly844Asp |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:<0.001 |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Conflicting interpretations of pathogenicity
|
2024-01-29 | criteria provided, conflicting interpretations | progressive familial heart block type IB |
germline
|
Detail |
Uncertain significance
|
2023-05-22 | criteria provided, single submitter |
germline
|
Detail | |
|
Uncertain significance
|
2023-08-29 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
Likely benign
|
2024-03-30 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Likely benign
|
2022-12-20 | criteria provided, single submitter | TRPM4-related disorder |
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 |
| 0.360 | Progressive Familial Heart Block, Type Ib | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) AND Progressive familial heart block type IB | ClinVar | Detail |
| NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) AND Cardiovascular phenotype | ClinVar | Detail |
| NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) AND not provided | ClinVar | Detail |
| NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) AND not specified | ClinVar | Detail |
| NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) AND TRPM4-related disorder | 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 |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs200038418 dbSNP
- Genome
- hg38
- Position
- chr19:49,196,760-49,196,760
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1177
- Mean of sample read depth (HGVD)
- 62.56
- Standard deviation of sample read depth (HGVD)
- 30.30
- Number of reference allele (HGVD)
- 2353
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 4.248088360237893E-4
- Gene Symbol (HGVD)
- TRPM4
- 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)
- 41
- Heterozygous Counts in All Race (ExAC)
- 41
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 0.002104722792607803
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