NM_012434.5(SLC17A5):c.693del (p.Phe233fs) AND Salla disease
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Oct 29, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000410694.3
Allele description [Variation Report for NM_012434.5(SLC17A5):c.693del (p.Phe233fs)]
NM_012434.5(SLC17A5):c.693del (p.Phe233fs)
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: Dec 30, 2023