chr3:37025636:G>A Detail (hg38) (MLH1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:37,067,127-37,067,127 View the variant detail on this assembly version. |
hg38 | chr3:37,025,636-37,025,636 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000249.3:c.1039-1G>A | |
NM_001167617.1:c.745-1G>A | ||
NM_001167618.1:c.316-1G>A |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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colorectal neoplasms, hereditary nonpolyposis |
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MGS000043
(TMGS000096) |
Kohei Miyazono | Tokyo University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2013-09-05 | reviewed by expert panel | Lynch syndrome |
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Detail |
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2021-07-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2024-01-19 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
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Detail |
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2018-08-20 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-07-19 | criteria provided, single submitter | Colorectal cancer, hereditary nonpolyposis, type 2 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.121 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
0.329 | Hereditary Nonpolyposis Colorectal Cancer | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000249.4(MLH1):c.1039-1G>A AND Lynch syndrome | ClinVar | Detail |
NM_000249.4(MLH1):c.1039-1G>A AND not provided | ClinVar | Detail |
NM_000249.4(MLH1):c.1039-1G>A AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
NM_000249.4(MLH1):c.1039-1G>A AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000249.4(MLH1):c.1039-1G>A AND Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs267607819 dbSNP
- Genome
- hg38
- Position
- chr3:37,025,636-37,025,636
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser