NM_001371727.1(GABRB2):c.737T>C (p.Ile246Thr) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 24, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000478537.1
Allele description [Variation Report for NM_001371727.1(GABRB2):c.737T>C (p.Ile246Thr)]
NM_001371727.1(GABRB2):c.737T>C (p.Ile246Thr)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
-
Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), tran...
Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 2, mRNAgi|38149990|ref|NM_003091.3|Nucleotide
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Last Updated: Apr 23, 2022