NM_020436.5(SALL4):c.2833G>A (p.Asp945Asn) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002476843.1
Allele description [Variation Report for NM_020436.5(SALL4):c.2833G>A (p.Asp945Asn)]
NM_020436.5(SALL4):c.2833G>A (p.Asp945Asn)
Condition(s)
- Name:
- Duane-radial ray syndrome (DRRS)
- Synonyms:
- DR SYNDROME; DUANE ANOMALY WITH RADIAL RAY ABNORMALITIES AND DEAFNESS; Acrorenoocular syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011812; MedGen: C1623209; Orphanet: 959; OMIM: 607323
-
RecName: Full=DNA polymerase epsilon catalytic subunit A; AltName: Full=3'-5' ex...
RecName: Full=DNA polymerase epsilon catalytic subunit A; AltName: Full=3'-5' exodeoxyribonuclease; AltName: Full=DNA polymerase II subunit Agi|116241339|sp|Q07864.5|DPOE1_HUMAProtein
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023