NM_000047.3(ARSL):c.1189G>A (p.Gly397Arg) AND X-linked chondrodysplasia punctata 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 3, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000625879.7
Allele description [Variation Report for NM_000047.3(ARSL):c.1189G>A (p.Gly397Arg)]
NM_000047.3(ARSL):c.1189G>A (p.Gly397Arg)
Condition(s)
- Name:
- X-linked chondrodysplasia punctata 1 (CDPX1)
- Synonyms:
- Chondrodysplasia punctata 1, X-linked recessive; Arylsulfatase E deficiency; Chondrodysplasia punctata, brachytelephalangic; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010555; MedGen: C3669395; OMIM: 302950
Assertion and evidence details
Last Updated: Feb 28, 2024