chr3:37038192:G>T Detail (hg19) (MLH1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:37,038,192-37,038,192 |
hg38 | chr3:36,996,701-36,996,701 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000249.3:c.199G>T | NP_000240.1:p.Gly67Trp |
NM_001167617.1:c.-91G>T | ||
NM_001167618.1:c.-525G>T |
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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2023-07-12 | criteria provided, single submitter | Colorectal cancer, hereditary nonpolyposis, type 2 |
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Detail |
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2013-09-05 | reviewed by expert panel | Lynch syndrome |
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Detail |
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1999-01-15 | no assertion criteria provided | Mismatch repair cancer syndrome 1 |
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Detail |
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2019-06-17 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.492 | Turcot syndrome (disorder) | NA | CLINVAR | Detail | |
0.440 | Hereditary Non-Polyposis Colon Cancer Type 2 | NA | CLINVAR | Detail | |
0.121 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
0.329 | Hereditary Nonpolyposis Colorectal Cancer | The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs be... | BeFree | 16982745 | Detail |
0.329 | Hereditary Nonpolyposis Colorectal Cancer | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000249.4(MLH1):c.199G>T (p.Gly67Trp) AND Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar | Detail |
NM_000249.4(MLH1):c.199G>T (p.Gly67Trp) AND Lynch syndrome | ClinVar | Detail |
NM_000249.4(MLH1):c.199G>T (p.Gly67Trp) AND Mismatch repair cancer syndrome 1 | ClinVar | Detail |
NM_000249.4(MLH1):c.199G>T (p.Gly67Trp) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
The approach was validated by transfecting cDNA of wild-type (WT) MLH1, cDNAs bearing two previously... | 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
- rs63750206 dbSNP
- Genome
- hg19
- Position
- chr3:37,038,192-37,038,192
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
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