NM_000350.3(ABCA4):c.2616C>G (p.Tyr872Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003562265.2
Allele description [Variation Report for NM_000350.3(ABCA4):c.2616C>G (p.Tyr872Ter)]
NM_000350.3(ABCA4):c.2616C>G (p.Tyr872Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Rattus norvegicus mediator complex subunit 31 (Med31), mRNA
Rattus norvegicus mediator complex subunit 31 (Med31), mRNAgi|209447012|ref|NM_001135813.1|Nucleotide
-
Homo sapiens drebrin 1 (DBN1), transcript variant 1, mRNA
Homo sapiens drebrin 1 (DBN1), transcript variant 1, mRNAgi|1844083957|ref|NM_004395.4|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024