chr3:37042447:AAGAAGA> Detail (hg19) (MLH1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:37,042,447-37,042,453 |
hg38 | chr3:37,000,956-37,000,962 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000249.3:c.209_215delAAGAAGA | NP_000240.1:p.Lys70IlefsTer20 |
NM_001167617.1:c.-81_-75delAAGAAGA | ||
NM_001167618.1:c.-515_-509delAAGAAGA |
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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2022-02-16 | criteria provided, single submitter | not provided |
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Detail |
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2024-01-17 | criteria provided, single submitter | Hereditary nonpolyposis colorectal neoplasms |
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Detail |
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2021-05-03 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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Detail |
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2023-07-12 | 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 |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001354629.2(MLH1):c.208-3445_208-3439del AND not provided | ClinVar | Detail |
NM_001354629.2(MLH1):c.208-3445_208-3439del AND Hereditary nonpolyposis colorectal neoplasms | ClinVar | Detail |
NM_001354629.2(MLH1):c.208-3445_208-3439del AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
NM_001354629.2(MLH1):c.208-3445_208-3439del AND Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar | 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
- rs730881734 dbSNP
- Genome
- hg19
- Position
- chr3:37,042,447-37,042,453
- Variant Type
- snv
- Reference Allele
- AAGAAGA
- Alternative Allele
- -
Genome browser