NM_000249.4(MLH1):c.1736C>A (p.Pro579Gln) AND Hereditary nonpolyposis colorectal neoplasms
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 11, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001327529.3
Allele description [Variation Report for NM_000249.4(MLH1):c.1736C>A (p.Pro579Gln)]
NM_000249.4(MLH1):c.1736C>A (p.Pro579Gln)
Condition(s)
- Name:
- Hereditary nonpolyposis colorectal neoplasms
- Identifiers:
- MeSH: D003123; MedGen: C0009405
-
RecName: Full=5-azacytidine-induced protein 2; AltName: Full=NF-kappa-B-activati...
RecName: Full=5-azacytidine-induced protein 2; AltName: Full=NF-kappa-B-activating kinase-associated protein 1; Short=Nak-associated protein 1; Short=Nap1gi|81882036|sp|Q9QYP6.1|AZI2_MOUSEProtein
-
M.seaverii 18S rRNA gene
M.seaverii 18S rRNA genegi|2125877|emb|Z73731.1|Nucleotide
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Last Updated: Mar 5, 2024