NM_130468.4(CHST14):c.20C>A (p.Thr7Asn) AND Ehlers-Danlos syndrome, musculocontractural type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 23, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003146422.3
Allele description [Variation Report for NM_130468.4(CHST14):c.20C>A (p.Thr7Asn)]
NM_130468.4(CHST14):c.20C>A (p.Thr7Asn)
Condition(s)
-
SLC35G1 [Malurus melanocephalus]
SLC35G1 [Malurus melanocephalus]Gene ID:130582561Gene
-
PTGER2 prostaglandin E receptor 2 [Bos taurus]
PTGER2 prostaglandin E receptor 2 [Bos taurus]Gene ID:282329Gene
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Last Updated: Sep 29, 2024