chr1:161356841:G>T Detail (hg38) (SDHC)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:161,326,631-161,326,631 View the variant detail on this assembly version. |
hg38 | chr1:161,356,841-161,356,841 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001035511.1:c.242-5488G>T | |
NM_003001.3:c.405+1G>T | ||
NM_001035513.1:c.246+1G>T |
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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criteria provided, single submitter | Paragangliomas 3 |
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Detail | |
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2023-12-28 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-12-31 | criteria provided, single submitter | gastrointestinal stromal tumor,Paragangliomas 3 |
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Detail |
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2023-12-31 | criteria provided, single submitter | gastrointestinal stromal tumor,Paragangliomas 3 |
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Detail |
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2024-03-01 | criteria provided, single submitter | not provided |
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Detail |
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2024-01-05 | criteria provided, single submitter | Hereditary pheochromocytoma-paraganglioma |
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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>T AND Paragangliomas 3 | ClinVar | Detail |
NM_003001.5(SDHC):c.405+1G>T AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_003001.5(SDHC):c.405+1G>T AND multiple conditions | ClinVar | Detail |
NM_003001.5(SDHC):c.405+1G>T AND multiple conditions | ClinVar | Detail |
NM_003001.5(SDHC):c.405+1G>T AND not provided | ClinVar | Detail |
NM_003001.5(SDHC):c.405+1G>T AND Hereditary pheochromocytoma-paraganglioma | 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
- hg38
- Position
- chr1:161,356,841-161,356,841
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8654
- 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)
- 121396
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.237503706876667E-6
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