chr3:37090470:C>T Detail (hg19) (MLH1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:37,090,470-37,090,470 |
hg38 | chr3:37,048,979-37,048,979 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001258271.1:c.1896+1296C>T | |
NM_001258274.1:c.1342C>T | NP_001245203.1:p.Gln448Ter | |
NM_001167618.1:c.1342C>T | NP_001161090.1:p.Gln448Ter |
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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bronchus or lung, unspecified |
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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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2014-07-01 | criteria provided, single submitter | not provided |
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Detail |
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2023-08-20 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
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Detail |
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2018-07-02 | criteria provided, single submitter | Lynch syndrome |
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Detail |
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2019-09-30 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-07-25 | 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 |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter) AND not provided | ClinVar | Detail |
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter) AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter) AND Lynch syndrome | ClinVar | Detail |
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter) AND Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar | 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
- rs41542214 dbSNP
- Genome
- hg19
- Position
- chr3:37,090,470-37,090,470
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser