NM_000302.4(PLOD1):c.1479C>T (p.Phe493=) AND Ehlers-Danlos syndrome, kyphoscoliotic type 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003827676.2
Allele description [Variation Report for NM_000302.4(PLOD1):c.1479C>T (p.Phe493=)]
NM_000302.4(PLOD1):c.1479C>T (p.Phe493=)
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
-
LOC127515961 [Ctenopharyngodon idella]
LOC127515961 [Ctenopharyngodon idella]Gene ID:127515961Gene
-
chst7 [Leucoraja erinacea]
chst7 [Leucoraja erinacea]Gene ID:129697838Gene
-
LOC113366679 [Ctenocephalides felis]
LOC113366679 [Ctenocephalides felis]Gene ID:113366679Gene
-
ALG1 [Egretta garzetta]
ALG1 [Egretta garzetta]Gene ID:104127217Gene
-
NYX [Gracilinanus agilis]
NYX [Gracilinanus agilis]Gene ID:123241624Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024