NM_020631.6(PLEKHG5):c.1535T>A (p.Val512Asp) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004025678.1
Allele description [Variation Report for NM_020631.6(PLEKHG5):c.1535T>A (p.Val512Asp)]
NM_020631.6(PLEKHG5):c.1535T>A (p.Val512Asp)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
amyloid-beta A4 precursor protein-binding family A member 2 isoform X3 [Homo sap...
amyloid-beta A4 precursor protein-binding family A member 2 isoform X3 [Homo sapiens]gi|2462543787|ref|XP_054233767.1|Protein
-
BDNF/NT-3 growth factors receptor isoform j precursor [Homo sapiens]
BDNF/NT-3 growth factors receptor isoform j precursor [Homo sapiens]gi|1610576652|ref|NP_001356476.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 7, 2024