NM_000093.5(COL5A1):c.2751G>A (p.Pro917=) AND Ehlers-Danlos syndrome, classic type, 1
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Dec 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001507180.16
Allele description [Variation Report for NM_000093.5(COL5A1):c.2751G>A (p.Pro917=)]
NM_000093.5(COL5A1):c.2751G>A (p.Pro917=)
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
-
Homo sapiens sirtuin 5 (SIRT5), transcript variant 6, mRNA; nuclear gene for mit...
Homo sapiens sirtuin 5 (SIRT5), transcript variant 6, mRNA; nuclear gene for mitochondrial productgi|1776945178|ref|NM_001376799.1|Nucleotide
-
Mus musculus ECSIT signalling integrator (Ecsit), transcript variant 1, mRNA; nu...
Mus musculus ECSIT signalling integrator (Ecsit), transcript variant 1, mRNA; nuclear gene for mitochondrial productgi|2503044961|ref|NM_012029.3|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 13, 2024