chr3:36996617:A>G Detail (hg38) (MLH1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:37,038,108-37,038,108 View the variant detail on this assembly version. |
| hg38 | chr3:36,996,617-36,996,617 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000249.3:c.117-2A>G | |
| NM_001167617.1:c.-173-2A>G | ||
| NM_001167618.1:c.-602-7A>G |
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 |
|---|---|---|---|---|---|
Pathogenic
|
2021-12-20 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-11-27 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
germline
|
Detail |
|
Pathogenic
|
2017-03-06 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2018-10-18 | reviewed by expert panel | Lynch syndrome |
germline
|
Detail |
|
Pathogenic
|
2020-08-06 | criteria provided, single submitter | Hereditary nonpolyposis colon cancer |
germline
|
Detail |
Likely pathogenic
|
2023-07-11 | criteria provided, single submitter | Colorectal cancer, hereditary nonpolyposis, type 2 |
unknown
|
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.117-2A>G AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000249.4(MLH1):c.117-2A>G AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
| NM_000249.4(MLH1):c.117-2A>G AND not provided | ClinVar | Detail |
| NM_000249.4(MLH1):c.117-2A>G AND Lynch syndrome | ClinVar | Detail |
| NM_000249.4(MLH1):c.117-2A>G AND Hereditary nonpolyposis colon cancer | ClinVar | Detail |
| NM_000249.4(MLH1):c.117-2A>G AND Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs267607712 dbSNP
- Genome
- hg38
- Position
- chr3:36,996,617-36,996,617
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser