NM_012434.5(SLC17A5):c.578T>C (p.Leu193Pro) AND Salla disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003039601.3
Allele description [Variation Report for NM_012434.5(SLC17A5):c.578T>C (p.Leu193Pro)]
NM_012434.5(SLC17A5):c.578T>C (p.Leu193Pro)
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
-
Mus musculus growth differentiation factor 10 (Gdf10), mRNA
Mus musculus growth differentiation factor 10 (Gdf10), mRNAgi|21919416|ref|NM_145741.1|Nucleotide
-
Rattus norvegicus TL0ACA24YC19 mRNA sequence
Rattus norvegicus TL0ACA24YC19 mRNA sequencegi|298889637|emb|FQ217532.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024