NM_000350.3(ABCA4):c.1916A>G (p.Tyr639Cys) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001317912.9
Allele description [Variation Report for NM_000350.3(ABCA4):c.1916A>G (p.Tyr639Cys)]
NM_000350.3(ABCA4):c.1916A>G (p.Tyr639Cys)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Sample 94
Sample 94biosample
-
Enteric intraneuronal nuclear inclusion bodies
Enteric intraneuronal nuclear inclusion bodiesMedGen
-
RBM43 RNA binding motif protein 43 [Gallus gallus]
RBM43 RNA binding motif protein 43 [Gallus gallus]Gene ID:424313Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024