chr3:37090446:G>A Detail (hg19) (MLH1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:37,090,446-37,090,446 |
hg38 | chr3:37,048,955-37,048,955 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001258271.1:c.1896+1272G>A | |
NM_000249.3:c.2041G>A | NP_000240.1:p.Ala681Thr | |
NM_001167617.1:c.1747G>A | NP_001161089.1:p.Ala583Thr |
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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2022-06-30 | criteria provided, multiple submitters, no conflicts | 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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no assertion criteria provided | not specified |
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Detail | |
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2022-04-12 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-08-15 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2024-01-15 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
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Detail |
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2018-10-31 | criteria provided, single submitter | Muir-Torré syndrome,Colorectal cancer, hereditary nonpolyposis, type 2,Mismatch repair cancer syndrome 1 |
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Detail |
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2018-10-31 | criteria provided, single submitter | Muir-Torré syndrome,Colorectal cancer, hereditary nonpolyposis, type 2,Mismatch repair cancer syndrome 1 |
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Detail |
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2018-10-31 | criteria provided, single submitter | Muir-Torré syndrome,Colorectal cancer, hereditary nonpolyposis, type 2,Mismatch repair cancer syndrome 1 |
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Detail |
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2021-03-01 | criteria provided, single submitter | Hereditary nonpolyposis colon cancer |
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Detail |
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2022-07-26 | criteria provided, single submitter | Muir-Torré 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.2041G>A (p.Ala681Thr) AND Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar | Detail |
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) AND Lynch syndrome | ClinVar | Detail |
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) AND not specified | ClinVar | Detail |
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) AND not provided | ClinVar | Detail |
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) AND multiple conditions | ClinVar | Detail |
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) AND multiple conditions | ClinVar | Detail |
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) AND multiple conditions | ClinVar | Detail |
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) AND Hereditary nonpolyposis colon cancer | ClinVar | Detail |
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) AND Muir-Torré 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 |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs63750217 dbSNP
- Genome
- hg19
- Position
- chr3:37,090,446-37,090,446
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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