NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) AND Ehlers-Danlos syndrome, kyphoscoliotic type 1
- Germline classification:
- Benign/Likely benign (3 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000999754.25
Allele description
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn)
Condition(s)
- Name:
- Ehlers-Danlos syndrome, kyphoscoliotic type 1 (EDSKSCL1)
- Synonyms:
- EHLERS-DANLOS SYNDROME, TYPE VIA; EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE; Nevo syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0016002; MedGen: C0268342; Orphanet: 1900; OMIM: 225400
-
Gene neighbors for Gene (Select 124315513) (6)
Gene
-
hypothetical protein GUITHDRAFT_122112 [Guillardia theta CCMP2712]
hypothetical protein GUITHDRAFT_122112 [Guillardia theta CCMP2712]gi|551631584|ref|XP_005818680.1||gn _WGS:AEIE|GUITHDRAFT_122112Protein
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024