NM_000302.4(PLOD1):c.1490C>G (p.Thr497Ser) AND Ehlers-Danlos syndrome, kyphoscoliotic type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003006524.3
Allele description [Variation Report for NM_000302.4(PLOD1):c.1490C>G (p.Thr497Ser)]
NM_000302.4(PLOD1):c.1490C>G (p.Thr497Ser)
Condition(s)
- Name:
- Ehlers-Danlos syndrome, kyphoscoliotic type 1 (EDSKSCL1)
- Synonyms:
- EHLERS-DANLOS SYNDROME, TYPE VIA; EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE; Nevo syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0016002; MedGen: C0268342; Orphanet: 1900; OMIM: 225400
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b3gnt2b [Oryzias latipes]
b3gnt2b [Oryzias latipes]Gene ID:101168731Gene
-
Homologene neighbors for GEO Profiles (Select 35381776) (0)
GEO Profiles
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Chromosome neighbors for GEO Profiles (Select 132132973) (20)
GEO Profiles
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GPR65 G protein-coupled receptor 65 [Homo sapiens]
GPR65 G protein-coupled receptor 65 [Homo sapiens]Gene ID:8477Gene
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Gene Links for GEO Profiles (Select 20695084) (1)
Gene
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Last Updated: Sep 29, 2024