NM_014762.4(DHCR24):c.*676C>G AND Desmosterolosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001102419.4
Allele description [Variation Report for NM_014762.4(DHCR24):c.*676C>G]
NM_014762.4(DHCR24):c.*676C>G
Condition(s)
-
PPP1R15B protein phosphatase 1 regulatory subunit 15B [Homo sapiens]
PPP1R15B protein phosphatase 1 regulatory subunit 15B [Homo sapiens]Gene ID:84919Gene
-
Gene Links for GEO Profiles (Select 84243258) (1)
Gene
-
TOR1A torsin family 1 member A [Homo sapiens]
TOR1A torsin family 1 member A [Homo sapiens]Gene ID:1861Gene
-
Gene Links for GEO Profiles (Select 126722489) (1)
Gene
-
Related DataSets for GEO Profiles (Select 84266809) (1)
GEO DataSets
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023