NM_000168.6(GLI3):c.331A>T (p.Met111Leu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003787611.1
Allele description [Variation Report for NM_000168.6(GLI3):c.331A>T (p.Met111Leu)]
NM_000168.6(GLI3):c.331A>T (p.Met111Leu)
Condition(s)
-
Gene Links for Nucleotide (Select 2030174677) (229)
Gene
-
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaMedGen
-
MedGen for Books (Select 1462456) (1)
MedGen
-
txid186116[Organism:noexp] (36)
PMC
-
PMC Links for Protein (Select 22749189) (2)
PMC
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024