NM_000393.5(COL5A2):c.3039+13A>G AND Ehlers-Danlos syndrome, classic type, 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 20, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002624465.3
Allele description [Variation Report for NM_000393.5(COL5A2):c.3039+13A>G]
NM_000393.5(COL5A2):c.3039+13A>G
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
-
D-3-phosphoglycerate dehydrogenase [Mus musculus]
D-3-phosphoglycerate dehydrogenase [Mus musculus]gi|52353955|ref|NP_058662.2|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024