NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) AND Noonan syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000852398.2
Allele description [Variation Report for NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu)]
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu)
Condition(s)
-
Homo sapiens G protein-coupled receptor kinase 6 (GRK6), transcript variant 2, m...
Homo sapiens G protein-coupled receptor kinase 6 (GRK6), transcript variant 2, mRNAgi|1914823174|ref|NM_002082.4|Nucleotide
-
Homo sapiens PDZ and LIM domain 7 (enigma), mRNA (cDNA clone MGC:99612 IMAGE:672...
Homo sapiens PDZ and LIM domain 7 (enigma), mRNA (cDNA clone MGC:99612 IMAGE:6729368), complete cdsgi|54038514|gb|BC084575.1|Nucleotide
-
Homo sapiens fibroblast growth factor receptor 4 (FGFR4) mRNA, FGFR4-A allele, c...
Homo sapiens fibroblast growth factor receptor 4 (FGFR4) mRNA, FGFR4-A allele, complete cdsgi|345846126|gb|JN007475.1|Nucleotide
-
Homo sapiens renal Na/Pi-cotransporter mRNA, complete cds
Homo sapiens renal Na/Pi-cotransporter mRNA, complete cdsgi|292349|gb|L13258.1|HUMNAPI3XNucleotide
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Last Updated: Jul 15, 2024