NM_000090.4(COL3A1):c.3589T>A (p.Cys1197Ser) AND Ehlers-Danlos syndrome, type 4
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 13, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001968629.4
Allele description [Variation Report for NM_000090.4(COL3A1):c.3589T>A (p.Cys1197Ser)]
NM_000090.4(COL3A1):c.3589T>A (p.Cys1197Ser)
Condition(s)
- Name:
- Ehlers-Danlos syndrome, type 4
- 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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hypothetical protein EC80_013595 [Bacteroides fragilis]
hypothetical protein EC80_013595 [Bacteroides fragilis]gi|1650054349|gnl|PRJNA244942|EC80_ 5|gb|QCQ45818.1|Protein
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Xenopus laevis MGC86418 protein, mRNA (cDNA clone MGC:86418 IMAGE:7011809), comp...
Xenopus laevis MGC86418 protein, mRNA (cDNA clone MGC:86418 IMAGE:7011809), complete cdsgi|50927272|gb|BC079807.1|Nucleotide
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Xenopus laevis hypothetical protein MGC68737, mRNA (cDNA clone MGC:68737 IMAGE:4...
Xenopus laevis hypothetical protein MGC68737, mRNA (cDNA clone MGC:68737 IMAGE:4058445), complete cdsgi|38014790|gb|BC060387.1|Nucleotide
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xl11041A04R_1353132 Xenopus ORFeome version 1.0 library Xenopus laevis cDNA clon...
xl11041A04R_1353132 Xenopus ORFeome version 1.0 library Xenopus laevis cDNA clone xl11041A04 3', mRNA sequencegi|798015440|gnl|dbEST|79645571|gb| 869.1|Nucleotide
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xl11018G04R_1375499 Xenopus ORFeome version 1.0 library Xenopus laevis cDNA clon...
xl11018G04R_1375499 Xenopus ORFeome version 1.0 library Xenopus laevis cDNA clone xl11018G04 3', mRNA sequencegi|798033405|gnl|dbEST|79647543|gb| 841.1|Nucleotide
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Last Updated: Sep 29, 2024