NM_007373.4(SHOC2):c.334A>G (p.Ile112Val) AND RASopathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 9, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001222137.9
Allele description [Variation Report for NM_007373.4(SHOC2):c.334A>G (p.Ile112Val)]
NM_007373.4(SHOC2):c.334A>G (p.Ile112Val)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
-
POTE ankyrin domain family member B2 isoform X3 [Homo sapiens]
POTE ankyrin domain family member B2 isoform X3 [Homo sapiens]gi|1034589499|ref|XP_016877342.1|Protein
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Last Updated: Sep 29, 2024