NM_012434.5(SLC17A5):c.786A>C (p.Glu262Asp) AND Salla disease
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 5, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001260955.2
Allele description [Variation Report for NM_012434.5(SLC17A5):c.786A>C (p.Glu262Asp)]
NM_012434.5(SLC17A5):c.786A>C (p.Glu262Asp)
Condition(s)
- Name:
- Salla disease (SD)
- Synonyms:
- Sialuria, Finnish type; N-acetylneuraminic acid (NANA) storage disease (NSD); Infantile sialic acid storage disorder (ISSD); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011449; MedGen: C1096903; Orphanet: 309334; Orphanet: 834; OMIM: 604369
Assertion and evidence details
Last Updated: Jun 23, 2024