NM_005629.4(SLC6A8):c.190T>C (p.Ser64Pro) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 28, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000623348.2
Allele description [Variation Report for NM_005629.4(SLC6A8):c.190T>C (p.Ser64Pro)]
NM_005629.4(SLC6A8):c.190T>C (p.Ser64Pro)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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PREDICTED: Calidris pugnax cell cycle associated protein 1 (CAPRIN1), transcript...
PREDICTED: Calidris pugnax cell cycle associated protein 1 (CAPRIN1), transcript variant X3, mRNAgi|960978431|ref|XM_014948843.1|Nucleotide
-
PREDICTED: Bactrocera oleae dnaJ homolog subfamily B member 6 (LOC106623636), tr...
PREDICTED: Bactrocera oleae dnaJ homolog subfamily B member 6 (LOC106623636), transcript variant X4, mRNAgi|1912037983|ref|XM_036369095.1|Nucleotide
-
cytochrome c oxidase subunit 7A2, mitochondrial isoform X1 [Rattus norvegicus]
cytochrome c oxidase subunit 7A2, mitochondrial isoform X1 [Rattus norvegicus]gi|2678963381|ref|XP_063121086.1|Protein
-
carnitine O-acetyltransferase isoform X3 [Mus musculus]
carnitine O-acetyltransferase isoform X3 [Mus musculus]gi|1720396891|ref|XP_030102925.1|Protein
-
phosphatidylserine lipase ABHD16A isoform X2 [Rattus norvegicus]
phosphatidylserine lipase ABHD16A isoform X2 [Rattus norvegicus]gi|2678924611|ref|XP_063135278.1|Protein
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Last Updated: Jan 7, 2023