NM_020436.5(SALL4):c.2977G>C (p.Gly993Arg) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002506935.1
Allele description [Variation Report for NM_020436.5(SALL4):c.2977G>C (p.Gly993Arg)]
NM_020436.5(SALL4):c.2977G>C (p.Gly993Arg)
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
-
Interphalangeal osteoarthritis
Interphalangeal osteoarthritisMedGen
-
C0263779[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024