NM_000527.5(LDLR):c.185C>T (p.Thr62Met) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 2, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000454406.14
Allele description [Variation Report for NM_000527.5(LDLR):c.185C>T (p.Thr62Met)]
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
LOC112904642 [Agrilus planipennis]
LOC112904642 [Agrilus planipennis]Gene ID:112904642Gene
-
SGMS1 [Gorilla gorilla gorilla]
SGMS1 [Gorilla gorilla gorilla]Gene ID:101138874Gene
-
PMM2 [Mauremys reevesii]
PMM2 [Mauremys reevesii]Gene ID:120373175Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024