chr19:55668953:G>A Detail (hg19) (TNNI3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr19:55,668,953-55,668,953 |
hg38 | chr19:55,157,585-55,157,585 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000363.4:c.5C>T | NP_000354.4:p.Ala2Val |
Ensemble | ENST00000344887.10:c.5C>T | ENST00000344887.10:p.Ala2Val |
ENST00000665070.1:c.5C>T | ENST00000665070.1:p.Ala2Val |
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 | 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 |
---|---|---|---|---|---|
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2009-08-14 | no assertion criteria provided | dilated cardiomyopathy 2A |
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Detail |
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2019-06-28 | criteria provided, single submitter | not specified |
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Detail |
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2023-06-08 | criteria provided, multiple submitters, no conflicts | cardiomyopathy |
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Detail |
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2021-07-28 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2024-01-22 | criteria provided, conflicting interpretations | hypertrophic cardiomyopathy |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.360 | Cardiomyopathy, Dilated, 1FF | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) AND Dilated cardiomyopathy 2A | ClinVar | Detail |
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) AND not specified | ClinVar | Detail |
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) AND Cardiomyopathy | ClinVar | Detail |
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) AND not provided | ClinVar | Detail |
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) AND Hypertrophic cardiomyopathy | ClinVar | 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
- rs397516359 dbSNP
- Genome
- hg19
- Position
- chr19:55,668,953-55,668,953
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8620
- 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)
- 120314
- Allele Counts in All Race (ExAC)
- 4
- Heterozygous Counts in All Race (ExAC)
- 4
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 3.324633874694549E-5
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