NM_000322.5(PRPH2):c.500G>T (p.Gly167Val) AND PRPH2-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003047754.2
Allele description [Variation Report for NM_000322.5(PRPH2):c.500G>T (p.Gly167Val)]
NM_000322.5(PRPH2):c.500G>T (p.Gly167Val)
Condition(s)
- Name:
- PRPH2-related disorder
- Synonyms:
- PRPH2-Related Disorders; PRPH2-related condition
- Identifiers:
- MedGen: CN239395
-
AADACL2 arylacetamide deacetylase like 2 [Homo sapiens]
AADACL2 arylacetamide deacetylase like 2 [Homo sapiens]Gene ID:344752Gene
-
Gene Links for GEO Profiles (Select 101946564) (1)
Gene
-
Mus musculus
Mus musculusGenome
-
Genome Links for Protein (Select 1386876290) (1)
Genome
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 12, 2024