NM_006214.4(PHYH):c.703G>A (p.Gly235Arg) AND Phytanic acid storage disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 6, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000778275.4
Allele description [Variation Report for NM_006214.4(PHYH):c.703G>A (p.Gly235Arg)]
NM_006214.4(PHYH):c.703G>A (p.Gly235Arg)
Condition(s)
- Name:
- Phytanic acid storage disease
- Synonyms:
- HMSN IV; REFSUM DISEASE, CLASSIC; Disorder of cornification 11 (phytanic acid type); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009958; MedGen: C0034960; Orphanet: 773; OMIM: 266500
-
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024