chr3:36993521:C>T Detail (hg38) (MLH1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:37,035,012-37,035,012 View the variant detail on this assembly version. |
| hg38 | chr3:36,993,521-36,993,521 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000249.3:c.-27C>T | |
| NM_001258271.1:c.-27C>T | ||
| NM_001258273.1:c.-659C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2023-11-13 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
germline
|
Detail |
not provided
|
no assertion provided | not provided |
not applicable
|
Detail | |
|
Uncertain significance
|
2023-08-31 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
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.-27C>T AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
| NM_000249.4(MLH1):c.-27C>T AND not provided | ClinVar | Detail |
| NM_000249.4(MLH1):c.-27C>T 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
- rs587779001 dbSNP
- Genome
- hg38
- Position
- chr3:36,993,521-36,993,521
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121336
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.241577108195424E-6
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