NM_002641.4(PIGA):c.443A>G (p.Gln148Arg) AND Multiple congenital anomalies-hypotonia-seizures syndrome 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003645512.2
Allele description [Variation Report for NM_002641.4(PIGA):c.443A>G (p.Gln148Arg)]
NM_002641.4(PIGA):c.443A>G (p.Gln148Arg)
Condition(s)
-
Enterobacteria phage T6 DNA, complete genome
Enterobacteria phage T6 DNA, complete genomegi|2046344462|ref|NC_054907.1|Nucleotide
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Homo sapiens alcohol dehydrogenase 5 (class III), chi polypeptide mRNA, complete...
Homo sapiens alcohol dehydrogenase 5 (class III), chi polypeptide mRNA, complete cdsgi|54696527|gnl|clontech|GH01172X1. BT019833.1|Nucleotide
-
ACAT2 [Mustela lutreola]
ACAT2 [Mustela lutreola]Gene ID:131833403Gene
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Last Updated: Sep 29, 2024