NM_000285.4(PEPD):c.1470T>C (p.Ser490=) AND Prolidase deficiency
- Germline classification:
- Likely benign (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:
- RCV000360329.5
Allele description [Variation Report for NM_000285.4(PEPD):c.1470T>C (p.Ser490=)]
NM_000285.4(PEPD):c.1470T>C (p.Ser490=)
Condition(s)
-
Homo sapiens coiled-coil domain containing 43, mRNA (cDNA clone IMAGE:3881873)
Homo sapiens coiled-coil domain containing 43, mRNA (cDNA clone IMAGE:3881873)gi|23958128|gb|BC023298.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024