NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) AND ABCA4-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004529887.1
Allele description [Variation Report for NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)]
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)
Condition(s)
- Name:
- ABCA4-related disorder
- Synonyms:
- ABCA4-Related Disorders; ABCA4-related condition
- Identifiers:
- MedGen: CN239167
-
Related Genes for BioProject (Select 699779) (5393)
Gene
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Streptococcus agalactiae isolate Streptococcus_agalactiae_BgEED28, whole genome shotgun sequencing projectgi|1985733548|emb|CABFMI000000000.1 MI010000000Nucleotide
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Bacterial isolate annotated genome sequence, cultured from human duodenal aspira...
Bacterial isolate annotated genome sequence, cultured from human duodenal aspiratebiosample
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See more...Assertion and evidence details
Last Updated: Aug 18, 2024