NM_001854.4(COL11A1):c.651+16A>G AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jul 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002500890.1
Allele description [Variation Report for NM_001854.4(COL11A1):c.651+16A>G]
NM_001854.4(COL11A1):c.651+16A>G
Condition(s)
- Name:
- Intervertebral disc disorder (IDD)
- Synonyms:
- Intervertebral disc disease; Lumbar disk degenerative disorder
- Identifiers:
- MONDO: MONDO:0044339; MedGen: C0158252; OMIM: 603932
- Name:
- Marshall syndrome (MRSHS)
- Synonyms:
- Deafness, myopia, cataract, saddle nose-Marshall type
- Identifiers:
- MONDO: MONDO:0007949; MedGen: C0265235; Orphanet: 560; OMIM: 154780
- 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
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Mus musculus cortactin, mRNA (cDNA clone MGC:18474 IMAGE:3981559), complete cds
Mus musculus cortactin, mRNA (cDNA clone MGC:18474 IMAGE:3981559), complete cdsgi|15030314|gb|BC011434.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Mar 10, 2024