NM_000350.3(ABCA4):c.6729+5_6729+19del AND Cone-rod dystrophy 3
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000416441.2
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)
-
365583[uid] (1)
Taxonomy
-
zinc finger protein 185 isoform X38 [Homo sapiens]
zinc finger protein 185 isoform X38 [Homo sapiens]gi|530422935|ref|XP_005274803.1|Protein
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fq43b11.x1 zebrafish adult brain Danio rerio cDNA clone IMAGE:4834125 3', mRNA s...
fq43b11.x1 zebrafish adult brain Danio rerio cDNA clone IMAGE:4834125 3', mRNA sequencegi|16059432|gnl|dbEST|9765336|gb|BI 9.1|Nucleotide
-
PREDICTED: Homo sapiens proteasome 26S subunit, non-ATPase 6 (PSMD6), transcript...
PREDICTED: Homo sapiens proteasome 26S subunit, non-ATPase 6 (PSMD6), transcript variant X1, mRNAgi|2217347207|ref|XM_011534288.2|Nucleotide
-
fc64b03.x1 Zebrafish WashU MPIMG EST Danio rerio cDNA clone IMAGE:3726125 3', mR...
fc64b03.x1 Zebrafish WashU MPIMG EST Danio rerio cDNA clone IMAGE:3726125 3', mRNA sequencegi|5552722|gnl|dbEST|2967220|gb|AI8 .1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024