chr3:36996617:A>T 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>T | |
NM_001167617.1:c.-173-2A>T | ||
NM_001167618.1:c.-602-7A>T |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2022-09-23 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
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Detail |
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2023-07-11 | criteria provided, single submitter | Colorectal cancer, hereditary nonpolyposis, type 2 |
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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>T AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
NM_000249.4(MLH1):c.117-2A>T 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
- -
- Genome
- hg38
- Position
- chr3:36,996,617-36,996,617
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
Genome browser