NM_001854.4(COL11A1):c.2449G>A (p.Gly817Ser) AND Stickler syndrome type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001096542.4
Allele description [Variation Report for NM_001854.4(COL11A1):c.2449G>A (p.Gly817Ser)]
NM_001854.4(COL11A1):c.2449G>A (p.Gly817Ser)
Condition(s)
- Name:
- Stickler syndrome type 2 (STL2)
- Synonyms:
- STICKLER SYNDROME, TYPE II; Stickler syndrome, vitreous type 2; Stickler syndrome, beaded vitreous type; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011493; MedGen: C1858084; Orphanet: 828; OMIM: 604841
-
environmental samples naphthalene dioxygenase (nahAc) mRNA, partial cds.
environmental samples naphthalene dioxygenase (nahAc) mRNA, partial cds.PopSet: 4235005PopSet
-
txid87031[Organism:noexp] (1)
PopSet
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Apr 9, 2023