NM_005633.4(SOS1):c.280A>G (p.Ile94Val) AND RASopathy
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Apr 18, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000523770.6
Allele description [Variation Report for NM_005633.4(SOS1):c.280A>G (p.Ile94Val)]
NM_005633.4(SOS1):c.280A>G (p.Ile94Val)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
-
Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium), mRNA (cDNA clon...
Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium), mRNA (cDNA clone IMAGE:5521658), with apparent retained introngi|21619125|gb|BC032531.1|Nucleotide
-
Mus musculus protocadherin alpha 2, mRNA (cDNA clone MGC:176352 IMAGE:9056003), ...
Mus musculus protocadherin alpha 2, mRNA (cDNA clone MGC:176352 IMAGE:9056003), complete cdsgi|223461502|gb|BC141390.1|Nucleotide
-
HAO1 [Myotis lucifugus]
HAO1 [Myotis lucifugus]Gene ID:102428306Gene
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Last Updated: Sep 29, 2024