NM_001194998.2(CEP152):c.3727C>G (p.Pro1243Ala) AND Seckel syndrome 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001117856.4
Allele description [Variation Report for NM_001194998.2(CEP152):c.3727C>G (p.Pro1243Ala)]
NM_001194998.2(CEP152):c.3727C>G (p.Pro1243Ala)
Condition(s)
-
Dbi diazepam binding inhibitor [Mus musculus]
Dbi diazepam binding inhibitor [Mus musculus]Gene ID:13167Gene
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Gene Links for GEO Profiles (Select 99654458) (1)
Gene
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Mus musculus sphingomyelin phosphodiesterase 4 (Smpd4), transcript variant 4, mR...
Mus musculus sphingomyelin phosphodiesterase 4 (Smpd4), transcript variant 4, mRNAgi|2214414559|ref|NM_001164609.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023