NM_024665.7(TBL1XR1):c.865-14C>T AND Pierpont syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003870654.1
Allele description [Variation Report for NM_024665.7(TBL1XR1):c.865-14C>T]
NM_024665.7(TBL1XR1):c.865-14C>T
Condition(s)
-
PMC Links for Nucleotide (Select 186967912) (2)
PMC
-
Taxonomy Links for Nucleotide (Select 29835197) (1)
Taxonomy
-
Myopathy, distal, with rimmed vacuoles
Myopathy, distal, with rimmed vacuolesMedGen
-
MedGen for OMIM (Select 617158) (1)
MedGen
-
Mus musculus strain BALB/c clone M2_BALBc_94 immunoglobulin heavy chain variable...
Mus musculus strain BALB/c clone M2_BALBc_94 immunoglobulin heavy chain variable region (Igh) mRNA, partial cdsgi|1132625934|gb|KY199161.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024