NM_000090.3(COL3A1):c.2534dup (p.Gly846fs) AND Ehlers-Danlos syndrome, type 4
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000087634.1
Allele description
NM_000090.3(COL3A1):c.2534dup (p.Gly846fs)
Condition(s)
- Name:
- Ehlers-Danlos syndrome, type 4 (EDSVASC)
- Synonyms:
- Ehlers-Danlos syndrome vascular type; Ehlers Danlos syndrome, ecchymotic type; Ehlers Danlos syndrome, arterial type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0017314; MedGen: C0268338; Orphanet: 286; OMIM: 130050
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MULTISPECIES: NAD(P)H-dependent glycerol-3-phosphate dehydrogenase [Staphylococc...
MULTISPECIES: NAD(P)H-dependent glycerol-3-phosphate dehydrogenase [Staphylococcus]gi|499594998|ref|WP_011275732.1|Protein
-
beta-hydroxyacyl-(acyl-carrier-protein) dehydratase FabA [Yersinia pestis]
beta-hydroxyacyl-(acyl-carrier-protein) dehydratase FabA [Yersinia pestis]gi|755464888|gnl|LANL|CH45_1761|gb| 121.1|Protein
-
Homo sapiens isolate L312 mitochondrion, complete genome
Homo sapiens isolate L312 mitochondrion, complete genomegi|156454984|gb|EU092678.1|Nucleotide
-
HSPA4L [Athene cunicularia]
HSPA4L [Athene cunicularia]Gene ID:113479556Gene
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Last Updated: Sep 26, 2021