NM_000393.5(COL5A2):c.1933G>A (p.Gly645Arg) AND Ehlers-Danlos syndrome, classic type, 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 5, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002232865.15
Allele description [Variation Report for NM_000393.5(COL5A2):c.1933G>A (p.Gly645Arg)]
NM_000393.5(COL5A2):c.1933G>A (p.Gly645Arg)
Condition(s)
- Name:
- Ehlers-Danlos syndrome, classic type, 1 (EDSCL1)
- Synonyms:
- EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0019567; MedGen: C0268335; OMIM: 130000
-
NADH dehydrogenase subunit 2 (mitochondrion) [Sericornis virgatus]
NADH dehydrogenase subunit 2 (mitochondrion) [Sericornis virgatus]gi|1127921483|gb|APT35277.1|Protein
-
UNVERIFIED: Lindera supracostata chloroplast sequence
UNVERIFIED: Lindera supracostata chloroplast sequencegi|1754176186|gb|MN453269.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024