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
-
Mus musculus junctional sarcoplasmic reticulum protein 1, mRNA (cDNA clone IMAGE...
Mus musculus junctional sarcoplasmic reticulum protein 1, mRNA (cDNA clone IMAGE:40045468), partial cdsgi|75516437|gb|BC104136.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 1, 2024