NM_000249.4(MLH1):c.2153A>C (p.His718Pro) AND Lynch syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 21, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000075557.4
Allele description [Variation Report for NM_000249.4(MLH1):c.2153A>C (p.His718Pro)]
NM_000249.4(MLH1):c.2153A>C (p.His718Pro)
Condition(s)
- Name:
- Lynch syndrome
- Identifiers:
- MONDO: MONDO:0005835; MedGen: C4552100
-
Tarsiidae (1)
MeSH
-
PREDICTED: Mus musculus mitogen-activated protein kinase kinase kinase 7 (Map3k7...
PREDICTED: Mus musculus mitogen-activated protein kinase kinase kinase 7 (Map3k7), transcript variant X3, misc_RNAgi|1907156134|ref|XR_004941907.1|Nucleotide
-
Homo sapiens cDNA FLJ59078 complete cds, highly similar to Ran-binding protein 2...
Homo sapiens cDNA FLJ59078 complete cds, highly similar to Ran-binding protein 2-like 6gi|194381035|dbj|AK302921.1|Nucleotide
-
TRUGW13939_04968 [Talaromyces rugulosus]
TRUGW13939_04968 [Talaromyces rugulosus]Gene ID:55992466Gene
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Last Updated: Feb 14, 2024