NM_019892.6(INPP5E):c.1312G>C (p.Asp438His) AND Joubert syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 29, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001197599.2
Allele description [Variation Report for NM_019892.6(INPP5E):c.1312G>C (p.Asp438His)]
NM_019892.6(INPP5E):c.1312G>C (p.Asp438His)
Condition(s)
-
Conserved Domain Links for Gene (Select 268281) (6)
Conserved Domains
-
Structure Links for Conserved Domains (Select 440843) (7)
Structure
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Last Updated: Dec 17, 2022