NM_002691.4(POLD1):c.1594G>A (p.Ala532Thr) AND POLD1-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004539945.1
Allele description [Variation Report for NM_002691.4(POLD1):c.1594G>A (p.Ala532Thr)]
NM_002691.4(POLD1):c.1594G>A (p.Ala532Thr)
Condition(s)
- Name:
- POLD1-related disorder
- Synonyms:
- POLD1-related disorders; POLD1-related condition
- Identifiers:
-
RecName: Full=Cdc42-interacting protein 4; AltName: Full=Protein Felic; AltName:...
RecName: Full=Cdc42-interacting protein 4; AltName: Full=Protein Felic; AltName: Full=Salt tolerant protein; Short=hSTP; AltName: Full=Thyroid receptor-interacting protein 10; Short=TR-interacting protein 10; Short=TRIP-10gi|118572632|sp|Q15642.3|CIP4_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024