NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) AND Lynch syndrome 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000490565.3
Allele description [Variation Report for NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)]
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
Condition(s)
- Name:
- Lynch syndrome 1
- Synonyms:
- COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; Lynch syndrome I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007356; MedGen: C2936783; Orphanet: 144; OMIM: 120435
-
carboxyl-terminal-processing peptidase 2, chloroplastic isoform X1 [Cucumis sati...
carboxyl-terminal-processing peptidase 2, chloroplastic isoform X1 [Cucumis sativus]gi|1784856873|ref|XP_031736351.1|Protein
-
PREDICTED: protein SCAI isoform X1 [Cucumis melo]
PREDICTED: protein SCAI isoform X1 [Cucumis melo]gi|659114670|ref|XP_008457173.1|Protein
-
PREDICTED: protein SCAI isoform X2 [Cucumis melo]
PREDICTED: protein SCAI isoform X2 [Cucumis melo]gi|659114672|ref|XP_008457174.1|Protein
-
hypothetical protein SDJN02_26954, partial [Cucurbita argyrosperma subsp. argyro...
hypothetical protein SDJN02_26954, partial [Cucurbita argyrosperma subsp. argyrosperma]gi|2053592731|gb|KAG7012046.1||gnl| DJN|SDJN02_26954Protein
-
hypothetical protein Csa_006040 [Cucumis sativus]
hypothetical protein Csa_006040 [Cucumis sativus]gi|1775892570|gb|KAE8651818.1||gnl| CHR|CsaV3_2P012890.1.cds1Protein
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Last Updated: Sep 29, 2024