NM_000455.5(STK11):c.799A>G (p.Ile267Val) AND Melanoma, cutaneous malignant, susceptibility to, 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003459677.1
Allele description [Variation Report for NM_000455.5(STK11):c.799A>G (p.Ile267Val)]
NM_000455.5(STK11):c.799A>G (p.Ile267Val)
Condition(s)
- Name:
- Melanoma, cutaneous malignant, susceptibility to, 1 (CMM1)
- Synonyms:
- Cutaneous malignant melanoma 1; MELANOMA, MALIGNANT; DYSPLASTIC NEVUS SYNDROME, HEREDITARY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007963; MedGen: C1835047; Orphanet: 618; OMIM: 155600
Assertion and evidence details
Last Updated: Oct 8, 2024