NM_024665.7(TBL1XR1):c.703-4G>A AND Pierpont syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002867661.2
Allele description [Variation Report for NM_024665.7(TBL1XR1):c.703-4G>A]
NM_024665.7(TBL1XR1):c.703-4G>A
Condition(s)
-
GPI mannosyltransferase 4 [Saimiri boliviensis boliviensis]
GPI mannosyltransferase 4 [Saimiri boliviensis boliviensis]gi|1984077139|ref|XP_039333522.1|Protein
-
PREDICTED: Parus major ceramide synthase 5 (CERS5), transcript variant X2, mRNA
PREDICTED: Parus major ceramide synthase 5 (CERS5), transcript variant X2, mRNAgi|998738481|ref|XM_015652060.1|Nucleotide
-
Immediate management at the scene and transport to hospital - Head Injury
Immediate management at the scene and transport to hospital - Head Injury
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Last Updated: Feb 20, 2024