NM_000026.4(ADSL):c.274G>A (p.Val92Met) AND Adenylosuccinate lyase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001884986.5
Allele description [Variation Report for NM_000026.4(ADSL):c.274G>A (p.Val92Met)]
NM_000026.4(ADSL):c.274G>A (p.Val92Met)
Condition(s)
-
CIT citron rho-interacting serine/threonine kinase [Homo sapiens]
CIT citron rho-interacting serine/threonine kinase [Homo sapiens]Gene ID:11113Gene
-
11113[uid] AND (alive[prop]) (1)
Gene
-
PLCG2 [Gorilla gorilla gorilla]
PLCG2 [Gorilla gorilla gorilla]Gene ID:101133643Gene
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See more...Assertion and evidence details
Last Updated: Feb 14, 2024