chr3:37047639:AAG> Detail (hg38) (MLH1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:37,089,130-37,089,132 |
| hg38 | chr3:37,047,639-37,047,641 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001258273.1:c.1129_1131delAAG | NP_001245202.1:p.Lys377del |
| NM_000249.3:c.1852_1854delAAG | NP_000240.1:p.Lys618del | |
| NM_001167617.1:c.1558_1560delAAG | NP_001161089.1:p.Lys520del |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
Lynch syndrome |
germline
|
MGS000001
(TMGS000138) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
gastric cancer |
germline
|
MGS000001
(TMGS000138) |
Kenjiro Kosaki | Keio University |
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| Lynch syndrome | E |
Predisposing
|
Supports
|
Uncertain Significance | Somatic | 2 | 25111426 | Detail |
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 | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| This variant, identified in two cases of microsatellite-unstable colorectal cancer was confirmed to ... | CIViC Evidence | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | 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
- rs587782285 dbSNP
- Genome
- hg38
- Position
- chr3:37,047,639-37,047,641
- Variant Type
- snv
- Reference Allele
- AAG
- Alternative Allele
- -
- Variant (CIViC) (CIViC Variant)
- K618DEL
- Transcript 1 (CIViC Variant)
- ENST00000231790.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/733
Genome browser