chr1:161326631:G>A Detail (hg19) (SDHC)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:161,326,631-161,326,631 |
hg38 | chr1:161,356,841-161,356,841 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001278172.1:c.140-5488G>A | |
NM_003001.3:c.405+1G>A | ||
NM_001035512.1:c.303+1G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2011-01-04 | no assertion criteria provided | Carney-Stratakis syndrome |
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Detail |
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2011-01-04 | no assertion criteria provided | gastrointestinal stromal tumor |
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Detail |
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no assertion criteria provided | Carney triad |
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Detail | |
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no assertion criteria provided | Hereditary pheochromocytoma-paraganglioma |
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Detail | |
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2019-08-20 | criteria provided, single submitter | Paragangliomas 3,gastrointestinal stromal tumor |
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Detail |
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2019-08-20 | criteria provided, single submitter | Paragangliomas 3,gastrointestinal stromal tumor |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.240 | Paragangliomas 3 | NA | CLINVAR | Detail | |
0.360 | PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA | NA | CLINVAR | Detail | |
0.121 | Carney triad | NA | CLINVAR | Detail | |
0.245 | Gastrointestinal Stromal Tumors | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_003001.5(SDHC):c.405+1G>A AND Carney-Stratakis syndrome | ClinVar | Detail |
NM_003001.5(SDHC):c.405+1G>A AND Gastrointestinal stromal tumor | ClinVar | Detail |
NM_003001.5(SDHC):c.405+1G>A AND Carney triad | ClinVar | Detail |
NM_003001.5(SDHC):c.405+1G>A AND Hereditary pheochromocytoma-paraganglioma | ClinVar | Detail |
NM_003001.5(SDHC):c.405+1G>A AND multiple conditions | ClinVar | Detail |
NM_003001.5(SDHC):c.405+1G>A AND multiple conditions | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs587776653 dbSNP
- Genome
- hg19
- Position
- chr1:161,326,631-161,326,631
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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