chr3:38554309:C>G Detail (hg38) (SCN5A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:38,595,800-38,595,800 View the variant detail on this assembly version. |
hg38 | chr3:38,554,309-38,554,309 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000335.4:c.4783G>C | NP_000326.2:p.Asp1595His |
NM_198056.2:c.4783G>C | NP_932173.1:p.Asp1595His | |
NM_001099404.1:c.4783G>C | NP_001092874.1:p.Asp1595His |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
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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2005-01-26 | no assertion criteria provided | dilated cardiomyopathy 1E |
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Detail |
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no assertion provided | Primary dilated cardiomyopathy |
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Detail | |
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2019-12-31 | criteria provided, single submitter | Brugada syndrome 1,long QT syndrome 3 |
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Detail |
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2019-12-31 | criteria provided, single submitter | Brugada syndrome 1,long QT syndrome 3 |
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Detail |
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2024-01-15 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.442 | Hereditary bundle branch system defect | NA | CLINVAR | Detail | |
0.360 | CARDIOMYOPATHY, DILATED, 1E | NA | CLINVAR | Detail | |
0.010 | Heart Diseases | In the DCM cohort, additional missense (T220I, R814W, D1595H) and truncation (25... | BeFree | 15671429 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His) AND Dilated cardiomyopathy 1E | ClinVar | Detail |
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His) AND Primary dilated cardiomyopathy | ClinVar | Detail |
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His) AND multiple conditions | ClinVar | Detail |
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His) AND multiple conditions | ClinVar | Detail |
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His) AND not provided | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
In the DCM cohort, additional missense (T220I, R814W, D1595H) and truncation (2550-2551insTG) SCN5A ... | 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
- rs137854607 dbSNP
- Genome
- hg38
- Position
- chr3:38,554,309-38,554,309
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
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