chr3:37092014:G>A Detail (hg19) (MLH1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:37,092,014-37,092,014 |
hg38 | chr3:37,050,523-37,050,523 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000249.3:c.2141G>A | NP_000240.1:p.Trp714Ter |
NM_001167617.1:c.1847G>A | NP_001161089.1:p.Trp616Ter | |
NM_001167618.1:c.1418G>A | NP_001161090.1:p.Trp473Ter |
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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2013-09-05 | reviewed by expert panel | Lynch syndrome |
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Detail |
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2014-07-24 | no assertion criteria provided | Lynch syndrome 1 |
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Detail |
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2021-11-26 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2022-10-31 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
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Detail |
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2022-08-26 | criteria provided, single submitter | not provided |
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Detail |
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2023-07-25 | 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 | |
0.120 | Colorectal cancer, hereditary nonpolyposis, type 1 | NA | CLINVAR | Detail | |
0.329 | Hereditary Nonpolyposis Colorectal Cancer | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter) AND Lynch syndrome | ClinVar | Detail |
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter) AND Lynch syndrome 1 | ClinVar | Detail |
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter) AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter) AND not provided | ClinVar | Detail |
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter) AND Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar | 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
- rs63751022 dbSNP
- Genome
- hg19
- Position
- chr3:37,092,014-37,092,014
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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