NM_014244.5(ADAMTS2):c.2457+7C>A AND Ehlers-Danlos syndrome, dermatosparaxis type
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002159966.6
Allele description [Variation Report for NM_014244.5(ADAMTS2):c.2457+7C>A]
NM_014244.5(ADAMTS2):c.2457+7C>A
Condition(s)
- Name:
- Ehlers-Danlos syndrome, dermatosparaxis type
- Synonyms:
- EDS VIIC; Dermatosparaxis; Ehlers-Danlos syndrome type 7C (formerly); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009161; MedGen: C2700425; Orphanet: 1901; OMIM: 225410
-
Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA
Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNAgi|21359883|ref|NM_006387.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024