NM_014244.5(ADAMTS2):c.2414C>T (p.Thr805Met) AND Ehlers-Danlos syndrome, dermatosparaxis type
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jul 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000646234.4
Allele description
NM_014244.5(ADAMTS2):c.2414C>T (p.Thr805Met)
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
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JGI_CAAP11610.fwd NIH_XGC_tropInt1 Xenopus tropicalis cDNA clone IMAGE:7717969 5...
JGI_CAAP11610.fwd NIH_XGC_tropInt1 Xenopus tropicalis cDNA clone IMAGE:7717969 5', mRNA sequencegi|58793432|gnl|dbEST|27686824|gb|C 10.1|Nucleotide
-
HS_2175_B2_D01_MF CIT Approved Human Genomic Sperm Library D Homo sapiens genomi...
HS_2175_B2_D01_MF CIT Approved Human Genomic Sperm Library D Homo sapiens genomic clone Plate=2175 Col=2 Row=H, genomic survey sequencegi|3494686|gnl|dbGSS|217692|gb|AQ11 1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023