chr3:37035075:G>T Detail (hg19) (MLH1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:37,035,075-37,035,075 |
hg38 | chr3:36,993,584-36,993,584 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001258271.1:c.37G>T | NP_001245200.1:p.Glu13Ter |
NM_000249.3:c.37G>T | NP_000240.1:p.Glu13Ter | |
NM_001258273.1:c.-596G>T |
Summary
MGeND
Clinical significance |
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Variant entry | 8 |
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 cancer |
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MGS000060
(TMGS000107) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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cancer |
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MGS000060
(TMGS000107) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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Endometrial cancer |
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MGS000060
(TMGS000107) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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gastric cancer |
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MGS000060
(TMGS000107) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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2021/03/19 | Colorectal |
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MGS000050
(TMGS000114) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
|||
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Lynch syndrome |
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MGS000001
(TMGS000138) |
Kenjiro Kosaki | Keio University | ||||
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gastric cancer |
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MGS000001
(TMGS000138) |
Kenjiro Kosaki | Keio University | ||||
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malignant neoplasm of rectum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
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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2022-02-28 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-04-19 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
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Detail |
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2023-07-07 | 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.37G>T (p.Glu13Ter) AND Lynch syndrome | ClinVar | Detail |
NM_000249.4(MLH1):c.37G>T (p.Glu13Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000249.4(MLH1):c.37G>T (p.Glu13Ter) AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
NM_000249.4(MLH1):c.37G>T (p.Glu13Ter) AND Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar | Detail |
NA | DisGeNET | 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
- rs587779008 dbSNP
- Genome
- hg19
- Position
- chr3:37,035,075-37,035,075
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser