NM_000302.4(PLOD1):c.1471-13C>T AND Ehlers-Danlos syndrome, kyphoscoliotic type 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003831249.1
Allele description [Variation Report for NM_000302.4(PLOD1):c.1471-13C>T]
NM_000302.4(PLOD1):c.1471-13C>T
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
-
MIMAG Metagenome-assembled Genome sample from Nitrospirota bacterium
MIMAG Metagenome-assembled Genome sample from Nitrospirota bacteriumbiosample
-
2489568[uid] (1)
Taxonomy
-
CHD2 chromodomain helicase DNA binding protein 2 [Homo sapiens]
CHD2 chromodomain helicase DNA binding protein 2 [Homo sapiens]Gene ID:1106Gene
-
BioProject Links for SRA (Select 6065214) (1)
BioProject
-
Ictalurus punctatus
Ictalurus punctatusIctalurus punctatus Raw sequence readsBioProject
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Mar 5, 2024