NM_001851.5(COL9A1):c.876+13C>T AND Stickler Syndrome, Recessive
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000385886.1
Allele description
NM_001851.5(COL9A1):c.876+13C>T
Condition(s)
- Name:
- Stickler Syndrome, Recessive
- Identifiers:
- MedGen: CN239473
-
PREDICTED: Sus scrofa microtubule associated protein tau (MAPT), transcript vari...
PREDICTED: Sus scrofa microtubule associated protein tau (MAPT), transcript variant X9, mRNAgi|1191820581|ref|XM_021066807.1|Nucleotide
-
LOW QUALITY PROTEIN: acetylcholinesterase [Culex quinquefasciatus]
LOW QUALITY PROTEIN: acetylcholinesterase [Culex quinquefasciatus]gi|1949575156|ref|XP_001842227.2|Protein
-
Mus musculus family with sequence similarity 83, member D (Fam83d), transcript v...
Mus musculus family with sequence similarity 83, member D (Fam83d), transcript variant 1, mRNAgi|2464171810|ref|NM_027975.3|Nucleotide
-
Growth differentiation factor 9 [Mus musculus]
Growth differentiation factor 9 [Mus musculus]gi|30851670|gb|AAH52667.1|Protein
-
RecName: Full=Histone H2B type 1
RecName: Full=Histone H2B type 1gi|399856|sp|Q00715.2|H2B1_RATProtein
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Last Updated: Nov 2, 2019