NM_000249.4(MLH1):c.142C>G (p.Gln48Glu) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 3, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000574574.5
Allele description [Variation Report for NM_000249.4(MLH1):c.142C>G (p.Gln48Glu)]
NM_000249.4(MLH1):c.142C>G (p.Gln48Glu)
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
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BioProject Links for Protein (Select 2675894732) (1)
BioProject
-
Nucleotide INSDC for Assembly (Select 22554301) (53)
Nucleotide
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MAG: Halolamina sp. isolate NA-0cm_bin.24 NODE_7191_length_3468_cov_6.726633, wh...
MAG: Halolamina sp. isolate NA-0cm_bin.24 NODE_7191_length_3468_cov_6.726633, whole genome shotgun sequencegi|2675894882|ref|NZ_JAZKRY01000013 gnl|WGS:NZ_JAZKRY01|NODE_7191_length_3468_cov_6.726633Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 11, 2024