NM_012434.5(SLC17A5):c.138C>T (p.Ala46=) AND Salla disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003614424.2
Allele description [Variation Report for NM_012434.5(SLC17A5):c.138C>T (p.Ala46=)]
NM_012434.5(SLC17A5):c.138C>T (p.Ala46=)
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
-
Homo sapiens protein arginine methyltransferase 8, mRNA (cDNA clone MGC:26069 IM...
Homo sapiens protein arginine methyltransferase 8, mRNA (cDNA clone MGC:26069 IMAGE:4796524), complete cdsgi|18490668|gb|BC022458.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024