NM_012434.5(SLC17A5):c.1322C>T (p.Pro441Leu) AND Salla disease
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Aug 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001056013.8
Allele description [Variation Report for NM_012434.5(SLC17A5):c.1322C>T (p.Pro441Leu)]
NM_012434.5(SLC17A5):c.1322C>T (p.Pro441Leu)
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
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Profile neighbors for GEO Profiles (Select 88492139) (200)
GEO Profiles
-
Nucleotide Links for Protein (Select 2189890637) (12)
Nucleotide
-
OMIM Links for GEO Profiles (Select 88506292) (1)
OMIM
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Last Updated: Sep 29, 2024