NM_020964.3(EPG5):c.3436T>C (p.Leu1146=) AND EPG5-related disorder
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Nov 8, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003937940.1
Allele description [Variation Report for NM_020964.3(EPG5):c.3436T>C (p.Leu1146=)]
NM_020964.3(EPG5):c.3436T>C (p.Leu1146=)
Condition(s)
- Name:
- EPG5-related disorder
- Synonyms:
- EPG5-related condition
- Identifiers:
-
PREDICTED: Homo sapiens tubulin gamma complex component 3 (TUBGCP3), transcript ...
PREDICTED: Homo sapiens tubulin gamma complex component 3 (TUBGCP3), transcript variant X1, mRNAgi|2217293419|ref|XM_047430038.1|Nucleotide
-
Metagenome-assembled genome: extra-SRR8443407.58_1677803232
Metagenome-assembled genome: extra-SRR8443407.58_1677803232biosample
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Last Updated: May 12, 2024