NM_000535.7(PMS2):c.269_270dup (p.Lys91fs) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Mar 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001177939.5
Allele description [Variation Report for NM_000535.7(PMS2):c.269_270dup (p.Lys91fs)]
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs)
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
-
nuclear speckle splicing regulatory protein 1 [Rattus norvegicus]
nuclear speckle splicing regulatory protein 1 [Rattus norvegicus]gi|81295345|ref|NP_001032266.1|Protein
-
hypothetical protein GUITHDRAFT_117609 [Guillardia theta CCMP2712]
hypothetical protein GUITHDRAFT_117609 [Guillardia theta CCMP2712]gi|551640861|ref|XP_005823234.1||gn _WGS:AEIE|GUITHDRAFT_117609Protein
-
alkyl hydroperoxide reductase subunit F [Planococcus rifietoensis]
alkyl hydroperoxide reductase subunit F [Planococcus rifietoensis]gi|961577437|gb|ALS75609.1||gnl|PRJ 456|AUC31_10560Protein
-
Chain B, ATP-dependent CLP protease, putative
Chain B, ATP-dependent CLP protease, putativegi|85544606|pdb|2F6I|BProtein
-
protoporphyrinogen oxidase [Actinosynnema mirum DSM 43827]
protoporphyrinogen oxidase [Actinosynnema mirum DSM 43827]gi|255919992|gnl|jgi|Amir_1553|gb|A 03.1|Protein
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024