NM_000152.5(GAA):c.318C>T (p.Arg106=) AND Cardiovascular phenotype
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002321692.9
Allele description [Variation Report for NM_000152.5(GAA):c.318C>T (p.Arg106=)]
NM_000152.5(GAA):c.318C>T (p.Arg106=)
Condition(s)
- Name:
- Cardiovascular phenotype
- Identifiers:
- MedGen: CN230736
-
Homo sapiens RNA binding motif protein, X-linked 2, mRNA (cDNA clone IMAGE:46418...
Homo sapiens RNA binding motif protein, X-linked 2, mRNA (cDNA clone IMAGE:4641887), with apparent retained introngi|15214436|gb|BC012345.1|Nucleotide
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Last Updated: Oct 13, 2024