NM_002528.7(NTHL1):c.232del (p.Val78fs) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001015982.3
Allele description [Variation Report for NM_002528.7(NTHL1):c.232del (p.Val78fs)]
NM_002528.7(NTHL1):c.232del (p.Val78fs)
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
-
Isolated focal cortical dysplasia type II
Isolated focal cortical dysplasia type IIMedGen
-
C1846385[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: May 7, 2024