NM_007055.4(POLR3A):c.2171G>A (p.Cys724Tyr) AND POLR3A-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003387736.1
Allele description [Variation Report for NM_007055.4(POLR3A):c.2171G>A (p.Cys724Tyr)]
NM_007055.4(POLR3A):c.2171G>A (p.Cys724Tyr)
Condition(s)
- Name:
- POLR3A-related disorder
- Synonyms:
- POLR3A-related disorders; POLR3A-related condition
- Identifiers:
-
RecName: Full=Protein bicaudal D homolog 2; Short=Bic-D 2
RecName: Full=Protein bicaudal D homolog 2; Short=Bic-D 2gi|34098604|sp|Q8TD16.1|BICD2_HUMANProtein
-
Polyp of vocal cord
Polyp of vocal cordMedGen
-
C0042929[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: May 12, 2024