NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) AND ABCA4-related disorder
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Nov 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001102037.6
Allele description [Variation Report for NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)]
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)
Condition(s)
- Name:
- ABCA4-related disorder
- Synonyms:
- ABCA4-Related Disorders; ABCA4-related condition
- Identifiers:
- MedGen: CN239167
-
EIF4A (0)
NLM Catalog
-
Homo sapiens biorientation of chromosomes in cell division 1, mRNA (cDNA clone M...
Homo sapiens biorientation of chromosomes in cell division 1, mRNA (cDNA clone MGC:4232 IMAGE:2961368), complete cdsgi|33870189|gb|BC007436.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024