NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 16, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002347931.2
Allele description [Variation Report for NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr)]
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
LIM homeobox transcription factor 1-beta [Homo sapiens]
LIM homeobox transcription factor 1-beta [Homo sapiens]gi|4505007|ref|NP_002307.1|Protein
-
607989 (1)
OMIM
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Last Updated: Oct 8, 2024