NM_014321.4(ORC6):c.*517G>A AND Meier-Gorlin syndrome 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001119068.4
Allele description [Variation Report for NM_014321.4(ORC6):c.*517G>A]
NM_014321.4(ORC6):c.*517G>A
Condition(s)
-
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: Apr 9, 2023