NM_000093.5(COL5A1):c.1495-7T>A AND Ehlers-Danlos syndrome, classic type, 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002560231.3
Allele description [Variation Report for NM_000093.5(COL5A1):c.1495-7T>A]
NM_000093.5(COL5A1):c.1495-7T>A
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
-
Bos taurus H2A clustered histone 14 (H2AC14), mRNA
Bos taurus H2A clustered histone 14 (H2AC14), mRNAgi|472825003|ref|NM_001098720.2|Nucleotide
-
Homo sapiens claspin homolog (Xenopus laevis), mRNA (cDNA clone MGC:131612 IMAGE...
Homo sapiens claspin homolog (Xenopus laevis), mRNA (cDNA clone MGC:131612 IMAGE:7961363), complete cdsgi|92098064|gb|BC115025.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024