chr3:37042456:T>G Detail (hg19) (MLH1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:37,042,456-37,042,456 |
| hg38 | chr3:37,000,965-37,000,965 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000249.3:c.218T>G | NP_000240.1:p.Leu73Arg |
| NM_001167617.1:c.-72T>G | ||
| NM_001167618.1:c.-506T>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2013-01-01 | no assertion criteria provided | Mismatch repair cancer syndrome 1 |
germline
|
Detail |
|
Likely pathogenic
|
2015-10-23 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Likely pathogenic
|
2022-03-11 | criteria provided, single submitter | Muir-Torré syndrome |
germline
|
Detail |
|
Pathogenic
|
2022-08-01 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
germline
|
Detail |
|
Likely pathogenic
|
2023-10-06 | criteria provided, single submitter | Colorectal cancer, hereditary nonpolyposis, type 2 |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.492 | Turcot syndrome (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000249.4(MLH1):c.218T>G (p.Leu73Arg) AND Mismatch repair cancer syndrome 1 | ClinVar | Detail |
| NM_000249.4(MLH1):c.218T>G (p.Leu73Arg) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000249.4(MLH1):c.218T>G (p.Leu73Arg) AND Muir-Torré syndrome | ClinVar | Detail |
| NM_000249.4(MLH1):c.218T>G (p.Leu73Arg) AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
| NM_000249.4(MLH1):c.218T>G (p.Leu73Arg) 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
- rs397514684 dbSNP
- Genome
- hg19
- Position
- chr3:37,042,456-37,042,456
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
Genome browser