NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln) AND Intellectual disability, autosomal dominant 15
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Dec 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000850606.5
Allele description [Variation Report for NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln)]
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln)
Condition(s)
-
kdsA [Rickettsia conorii str. Malish 7]
kdsA [Rickettsia conorii str. Malish 7]Gene ID:928110Gene
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024