NM_021830.5(TWNK):c.1338C>T (p.Ile446=) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 9, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000426085.1
Allele description [Variation Report for NM_021830.5(TWNK):c.1338C>T (p.Ile446=)]
NM_021830.5(TWNK):c.1338C>T (p.Ile446=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), mRNA
Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), mRNAgi|75812964|ref|NM_007347.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024