NM_012434.5(SLC17A5):c.129A>G (p.Ala43=) AND Salla disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 8, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001439629.6
Allele description [Variation Report for NM_012434.5(SLC17A5):c.129A>G (p.Ala43=)]
NM_012434.5(SLC17A5):c.129A>G (p.Ala43=)
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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PREDICTED: Homo sapiens interleukin 6 receptor (IL6R), transcript variant X17, m...
PREDICTED: Homo sapiens interleukin 6 receptor (IL6R), transcript variant X17, mRNAgi|2462508774|ref|XM_054336402.1|Nucleotide
-
interleukin-6 receptor subunit alpha isoform X9 [Homo sapiens]
interleukin-6 receptor subunit alpha isoform X9 [Homo sapiens]gi|2217267152|ref|XP_047275613.1|Protein
-
wd34f04.x1 Soares_NFL_T_GBC_S1 Homo sapiens cDNA clone IMAGE:2330047 3', mRNA se...
wd34f04.x1 Soares_NFL_T_GBC_S1 Homo sapiens cDNA clone IMAGE:2330047 3', mRNA sequencegi|4888070|gnl|dbEST|2577668|gb|AI6 .1|Nucleotide
-
sorting nexin-7 isoform X2 [Homo sapiens]
sorting nexin-7 isoform X2 [Homo sapiens]gi|2462509879|ref|XP_054192909.1|Protein
-
leucine-rich repeat family protein, partial [Lepidium didymum]
leucine-rich repeat family protein, partial [Lepidium didymum]gi|2705585581|gb|WYC12937.1|Protein
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Last Updated: May 1, 2024