chr2:47445644:T>G Detail (hg38) (MSH2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:47,672,783-47,672,783 View the variant detail on this assembly version. |
hg38 | chr2:47,445,644-47,445,644 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000251.2:c.1373T>G | NP_000242.1:p.Leu458Ter |
NM_001258281.1:c.1175T>G | NP_001245210.1:p.Leu392Ter | |
Ensemble | ENST00000233146.7:c.1373T>G | ENST00000233146.7:p.Leu458Ter |
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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2013-09-05 | reviewed by expert panel | Lynch syndrome |
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Detail |
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2022-07-01 | criteria provided, single submitter | not provided |
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Detail |
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2022-07-21 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-08-01 | criteria provided, single submitter | Lynch syndrome 1 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.332 | Hereditary Nonpolyposis Colorectal Cancer | NA | CLINVAR | Detail | |
0.121 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000251.3(MSH2):c.1373T>G (p.Leu458Ter) AND Lynch syndrome | ClinVar | Detail |
NM_000251.3(MSH2):c.1373T>G (p.Leu458Ter) AND not provided | ClinVar | Detail |
NM_000251.3(MSH2):c.1373T>G (p.Leu458Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000251.3(MSH2):c.1373T>G (p.Leu458Ter) AND Lynch syndrome 1 | 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
- rs63750521 dbSNP
- Genome
- hg38
- Position
- chr2:47,445,644-47,445,644
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
Genome browser