NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=) AND Aortic valve disease 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002270960.1
Allele description [Variation Report for NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=)]
NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=)
Condition(s)
-
BJ626300 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cD...
BJ626300 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cDNA clone XL214g22 5', mRNA sequencegi|37271850|gnl|dbEST|19931311|dbj| 300.1|Nucleotide
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Last Updated: Sep 29, 2024