NM_002641.4(PIGA):c.384T>C (p.His128=) AND Multiple congenital anomalies-hypotonia-seizures syndrome 2
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Aug 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001518903.14
Allele description [Variation Report for NM_002641.4(PIGA):c.384T>C (p.His128=)]
NM_002641.4(PIGA):c.384T>C (p.His128=)
Condition(s)
-
PREDICTED: aspartyl/asparaginyl beta-hydroxylase, partial [Tauraco erythrolophus...
PREDICTED: aspartyl/asparaginyl beta-hydroxylase, partial [Tauraco erythrolophus]gi|701325507|ref|XP_009991328.1|Protein
-
LOC110799648 [Spinacia oleracea]
LOC110799648 [Spinacia oleracea]Gene ID:110799648Gene
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024