NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val) AND Ehlers-Danlos syndrome, classic type, 1
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 16, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001537856.15
Allele description [Variation Report for NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val)]
NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val)
Condition(s)
- Name:
- Ehlers-Danlos syndrome, classic type, 1 (EDSCL1)
- Synonyms:
- EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0019567; MedGen: C0268335; OMIM: 130000
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Profile neighbors for GEO Profiles (Select 132099552) (200)
GEO Profiles
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Component(Core) Links for Nucleotide (Select 342349326) (2)
Nucleotide
-
Homo sapiens collagen type I alpha 2 chain (COL1A2), mRNA
Homo sapiens collagen type I alpha 2 chain (COL1A2), mRNAgi|1732746286|ref|NM_000089.4|Nucleotide
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ARID2 AT-rich interaction domain 2 [Homo sapiens]
ARID2 AT-rich interaction domain 2 [Homo sapiens]Gene ID:196528Gene
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Gene Links for GEO Profiles (Select 132123845) (1)
Gene
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Last Updated: Sep 29, 2024