NM_006939.4(SOS2):c.3735T>G (p.Asp1245Glu) AND Noonan syndrome 9
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 27, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001947466.6
Allele description [Variation Report for NM_006939.4(SOS2):c.3735T>G (p.Asp1245Glu)]
NM_006939.4(SOS2):c.3735T>G (p.Asp1245Glu)
Condition(s)
-
annexin A8 [Homo sapiens]
annexin A8 [Homo sapiens]gi|4502113|ref|NP_001621.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024