NM_000518.5(HBB):c.316_444del (p.Leu106_Ter148del) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 15, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001269514.2
Allele description [Variation Report for NM_000518.5(HBB):c.316_444del (p.Leu106_Ter148del)]
NM_000518.5(HBB):c.316_444del (p.Leu106_Ter148del)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
signal transducer and activator of transcription 1-alpha/beta isoform alpha [Hom...
signal transducer and activator of transcription 1-alpha/beta isoform alpha [Homo sapiens]gi|6274552|ref|NP_009330.1|Protein
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Last Updated: Feb 4, 2024