NM_000089.4(COL1A2):c.87T>C (p.Thr29=) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001511612.6
Allele description
NM_000089.4(COL1A2):c.87T>C (p.Thr29=)
Condition(s)
- Name:
- Osteogenesis imperfecta type I (OI1)
- Synonyms:
- OI, TYPE I; Osteogenesis imperfecta type 1; OI type 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008146; MedGen: C0023931; Orphanet: 666; OMIM: 166200
- 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
-
Clinical presentations - When To Suspect Child Maltreatment
Clinical presentations - When To Suspect Child Maltreatment
-
endo-1,3(4)-beta-glucanase [Salvia divinorum]
endo-1,3(4)-beta-glucanase [Salvia divinorum]gi|2789762048|gb|KAL1538884.1||gnl| BEAFC|t1.AAHA92_27575Protein
-
endo-1,3-beta glucanase [Sporothrix bragantina]
endo-1,3-beta glucanase [Sporothrix bragantina]gi|2807014815|emb|CAK7226073.1||gnl CAWU|CAK7226073Protein
-
endo-1,3-beta glucanase [Sporothrix eucalyptigena]
endo-1,3-beta glucanase [Sporothrix eucalyptigena]gi|2807027662|emb|CAK7201453.1||gnl CAWU|CAK7201453Protein
-
Pourouma tomentosa voucher NL110530 tRNA-Leu(UAA) (trnL) gene, intron; chloropla...
Pourouma tomentosa voucher NL110530 tRNA-Leu(UAA) (trnL) gene, intron; chloroplastgi|224383476|gb|FJ039338.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: May 7, 2024