NM_002641.4(PIGA):c.481G>T (p.Asp161Tyr) AND Multiple congenital anomalies-hypotonia-seizures syndrome 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 14, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000697028.7
Allele description [Variation Report for NM_002641.4(PIGA):c.481G>T (p.Asp161Tyr)]
NM_002641.4(PIGA):c.481G>T (p.Asp161Tyr)
Condition(s)
-
LOC110790194 [Spinacia oleracea]
LOC110790194 [Spinacia oleracea]Gene ID:110790194Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024