NM_000077.5(CDKN2A):c.156G>C (p.Met52Ile) AND Familial melanoma
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003036648.2
Allele description
NM_000077.5(CDKN2A):c.156G>C (p.Met52Ile)
Condition(s)
- Name:
- Familial melanoma
- Synonyms:
- Hereditary melanoma; Hereditary cutaneous melanoma
- Identifiers:
- MONDO: MONDO:0018961; MedGen: C1512419
-
Homo sapiens ribosomal protein L37 pseudogene 14 (RPL37P14) on chromosome 4
Homo sapiens ribosomal protein L37 pseudogene 14 (RPL37P14) on chromosome 4gi|224493536|ref|NG_010890.1|Nucleotide
-
Homo sapiens DNA polymerase epsilon p12 subunit gene, complete cds
Homo sapiens DNA polymerase epsilon p12 subunit gene, complete cdsgi|9623360|gb|AF261688.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 1, 2024