chr3:37061902:A>C Detail (hg19) (MLH1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:37,061,902-37,061,902 |
| hg38 | chr3:37,020,411-37,020,411 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001167619.1:c.263A>C | NP_001161091.1:p.His88Pro |
| NM_001258273.1:c.263A>C | NP_001245202.1:p.His88Pro | |
| NM_000249.3:c.986A>C | NP_000240.1:p.His329Pro |
Summary
MGeND
| Clinical significance |
not provided
|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Uncertain significance
|
2023-04-07 | criteria provided, single submitter | Colorectal cancer, hereditary nonpolyposis, type 2 |
unknown
|
Detail |
Pathogenic
|
2013-09-05 | reviewed by expert panel | Lynch syndrome |
germline
|
Detail |
|
Pathogenic
|
2021-07-30 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.440 | Hereditary Non-Polyposis Colon Cancer Type 2 | NA | CLINVAR | Detail | |
| 0.329 | Hereditary Nonpolyposis Colorectal Cancer | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000249.4(MLH1):c.986A>C (p.His329Pro) AND Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar | Detail |
| NM_000249.4(MLH1):c.986A>C (p.His329Pro) AND Lynch syndrome | ClinVar | Detail |
| NM_000249.4(MLH1):c.986A>C (p.His329Pro) AND Hereditary cancer-predisposing syndrome | 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
- rs63750710 dbSNP
- Genome
- hg19
- Position
- chr3:37,061,902-37,061,902
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser