chr3:37020411:A>C Detail (hg38) (MLH1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:37,061,902-37,061,902 View the variant detail on this assembly version. |
hg38 | chr3:37,020,411-37,020,411 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000249.3:c.986A>C | NP_000240.1:p.His329Pro |
NM_001167617.1:c.692A>C | NP_001161089.1:p.His231Pro | |
NM_001167618.1:c.263A>C | NP_001161090.1:p.His88Pro |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2023-04-07 | criteria provided, single submitter | Colorectal cancer, hereditary nonpolyposis, type 2 |
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Detail |
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2013-09-05 | reviewed by expert panel | Lynch syndrome |
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Detail |
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2021-07-30 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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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
- hg38
- Position
- chr3:37,020,411-37,020,411
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
Genome browser