NM_002863.5(PYGL):c.1970-15T>A AND PYGL-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003896015.1
Allele description [Variation Report for NM_002863.5(PYGL):c.1970-15T>A]
NM_002863.5(PYGL):c.1970-15T>A
Condition(s)
- Name:
- PYGL-related disorder
- Synonyms:
- PYGL-related condition
- Identifiers:
-
Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), trans...
Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), transcript variant 1, mRNAgi|1519245086|ref|NM_000668.6|Nucleotide
-
Homo sapiens BRCA1 DNA repair associated (BRCA1), transcript variant 240, mRNA
Homo sapiens BRCA1 DNA repair associated (BRCA1), transcript variant 240, mRNAgi|2250232335|ref|NM_001407974.1|Nucleotide
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Last Updated: Sep 29, 2024