NM_000447.3(PSEN2):c.1168G>T (p.Ala390Ser) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003246507.2
Allele description [Variation Report for NM_000447.3(PSEN2):c.1168G>T (p.Ala390Ser)]
NM_000447.3(PSEN2):c.1168G>T (p.Ala390Ser)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
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PREDICTED: Homo sapiens golgi SNAP receptor complex member 2 (GOSR2), transcript...
PREDICTED: Homo sapiens golgi SNAP receptor complex member 2 (GOSR2), transcript variant X2, mRNAgi|2462558975|ref|XM_054317895.1|Nucleotide
-
Whole genome of strain NFP31
Whole genome of strain NFP31biosample
-
Homo sapiens chromosome 18, clone RP11-1058N17, complete sequence
Homo sapiens chromosome 18, clone RP11-1058N17, complete sequencegi|23308085|gnl|WIBR|L26098|gb|AC11 10|Nucleotide
-
Mus musculus SWI/SNF related, matrix associated, actin dependent regulator of ch...
Mus musculus SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2, mRNA (cDNA clone IMAGE:5686195), partial cdsgi|38565929|gb|BC062102.1|Nucleotide
-
nuclear protein 1 [Rattus norvegicus]
nuclear protein 1 [Rattus norvegicus]gi|16758406|ref|NP_446063.1|Protein
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Last Updated: May 1, 2024