NM_000390.4(CHM):c.715C>T (p.Arg239Ter) AND Choroideremia
- Germline classification:
- Pathogenic (4 submissions)
- Last evaluated:
- May 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000763635.7
Allele description [Variation Report for NM_000390.4(CHM):c.715C>T (p.Arg239Ter)]
NM_000390.4(CHM):c.715C>T (p.Arg239Ter)
Condition(s)
- Name:
- Choroideremia (CHM)
- Synonyms:
- Progressive tapetochoroidal dystrophy
- Identifiers:
- MONDO: MONDO:0010557; MedGen: C0008525; Orphanet: 180; OMIM: 303100; Human Phenotype Ontology: HP:0001139
-
PubChem Substance Links for Gene (Select 231798) (53)
PubChem Substance
-
BioAssays, RNAi Target, Tested for Gene (Select 9132) (13)
PubChem BioAssay
-
ClinVar for MedGen (Select 335735) (186)
ClinVar
-
ClinVar for MedGen (Select 414552) (110)
ClinVar
-
RECONSTRUCTIVE INDICATIONS - Dutch Breast Implant Registry (DBIR) Annual Report ...
RECONSTRUCTIVE INDICATIONS - Dutch Breast Implant Registry (DBIR) Annual Report 2018
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024