NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg) AND Duane-radial ray syndrome
- Germline classification:
- Benign (3 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000990318.9
Allele description [Variation Report for NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg)]
NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg)
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
Assertion and evidence details
Last Updated: Mar 10, 2024