NM_000350.3(ABCA4):c.6729+5_6729+19del AND Age related macular degeneration 2
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001542553.3
Allele description [Variation Report for NM_000350.3(ABCA4):c.6729+5_6729+19del]
NM_000350.3(ABCA4):c.6729+5_6729+19del
Condition(s)
-
Danio rerio myotubularin related protein 2 mRNA, partial cds
Danio rerio myotubularin related protein 2 mRNA, partial cdsgi|3916229|gb|AF073883.1|Nucleotide
-
fz82a08.x1 Sugano SJD adult male Danio rerio cDNA clone IMAGE:5914671 3', mRNA s...
fz82a08.x1 Sugano SJD adult male Danio rerio cDNA clone IMAGE:5914671 3', mRNA sequencegi|20463046|gnl|dbEST|12291540|gb|B 67.1|Nucleotide
-
fi12g11.x1 Sugano Kawakami zebrafish DRA Danio rerio cDNA clone IMAGE:2600996 3'...
fi12g11.x1 Sugano Kawakami zebrafish DRA Danio rerio cDNA clone IMAGE:2600996 3', mRNA sequencegi|6082568|gnl|dbEST|3259286|gb|AW1 .1|Nucleotide
-
disks large homolog 1 [Rattus norvegicus]
disks large homolog 1 [Rattus norvegicus]gi|6978763|ref|NP_036920.1|Protein
-
structural maintenance of chromosomes protein 1B [Rattus norvegicus]
structural maintenance of chromosomes protein 1B [Rattus norvegicus]gi|194473650|ref|NP_001123970.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024