NM_005529.7(HSPG2):c.4903G>A (p.Gly1635Arg) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002494920.1
Allele description [Variation Report for NM_005529.7(HSPG2):c.4903G>A (p.Gly1635Arg)]
NM_005529.7(HSPG2):c.4903G>A (p.Gly1635Arg)
Condition(s)
- Name:
- Lethal Kniest-like syndrome (DDSH)
- Synonyms:
- Dyssegmental dwarfism Silverman-Handmaker type; Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type; Dyssegmental Dysplasia
- Identifiers:
- MONDO: MONDO:0009140; MedGen: C1857100; Orphanet: 1865; OMIM: 224410
- Name:
- Schwartz-Jampel syndrome type 1
- Synonyms:
- MYOTONIC MYOPATHY, DWARFISM, CHONDRODYSTROPHY, AND OCULAR AND FACIAL ABNORMALITIES; SCHWARTZ-JAMPEL-ABERFELD SYNDROME; SJA SYNDROME; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0100435; MedGen: C4551479; OMIM: 255800
Assertion and evidence details
Last Updated: Mar 30, 2024