chr3:37056039:A>C Detail (hg19) (MLH1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:37,056,039-37,056,039 |
| hg38 | chr3:37,014,548-37,014,548 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000249.3:c.790+4A>C | |
| NM_001167617.1:c.496+4A>C | ||
| NM_001167618.1:c.67+4A>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2014-12-12 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Likely pathogenic
|
2019-07-01 | no assertion criteria provided | Lynch-like syndrome |
somatic
|
Detail |
|
Likely pathogenic
|
2023-08-04 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.121 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000249.4(MLH1):c.790+4A>C AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000249.4(MLH1):c.790+4A>C AND Lynch-like syndrome | ClinVar | Detail |
| NM_000249.4(MLH1):c.790+4A>C AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs267607786 dbSNP
- Genome
- hg19
- Position
- chr3:37,056,039-37,056,039
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser