NM_033056.4(PCDH15):c.4810A>G (p.Arg1604Gly) AND Usher syndrome type 1F
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 18, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001829000.1
Allele description [Variation Report for NM_033056.4(PCDH15):c.4810A>G (p.Arg1604Gly)]
NM_033056.4(PCDH15):c.4810A>G (p.Arg1604Gly)
Condition(s)
-
sm eggc.viphut (596)
BioProject
-
Persistent Vegetative State
Persistent Vegetative StateVegetative state refers to the neurocognitive status of individuals with severe brain damage, in whom physiologic functions (sleep-wake cycles, autonomic control, and breathin...<br/>Year introduced: 1995MeSH
-
OMIM Links for Nucleotide (Select 1676441514) (4)
OMIM
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See more...Assertion and evidence details
Last Updated: May 7, 2024