NM_130468.4(CHST14):c.85A>G (p.Arg29Gly) AND Ehlers-Danlos syndrome, musculocontractural type
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003633769.2
Allele description [Variation Report for NM_130468.4(CHST14):c.85A>G (p.Arg29Gly)]
NM_130468.4(CHST14):c.85A>G (p.Arg29Gly)
Condition(s)
- Name:
- Ehlers-Danlos syndrome, musculocontractural type (EDSMC)
- Synonyms:
- ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS; DUNDAR SYNDROME; Adducted Thumb-Clubfoot Syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011142; MedGen: C1866294; Orphanet: 2953
-
plasma protease C1 inhibitor [Neogale vison]
plasma protease C1 inhibitor [Neogale vison]gi|2112876307|ref|XP_044115275.1|Protein
-
LOC131220976 [Magnolia sinica]
LOC131220976 [Magnolia sinica]Gene ID:131220976Gene
-
PMC Links for Protein (Select 209972244) (1)
PMC
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024