NM_013335.4(GMPPA):c.486C>G (p.His162Gln) AND GMPPA-related disorder
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Nov 21, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003957471.2
Allele description [Variation Report for NM_013335.4(GMPPA):c.486C>G (p.His162Gln)]
NM_013335.4(GMPPA):c.486C>G (p.His162Gln)
Condition(s)
- Name:
- GMPPA-related disorder
- Synonyms:
- GMPPA-related condition
- Identifiers:
-
SCD5 protein [Homo sapiens]
SCD5 protein [Homo sapiens]gi|13436281|gb|AAH04936.1|Protein
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Last Updated: Oct 13, 2024