LOVD - Variant listings for ABCA4

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Patient data (#0014036)
Disease retinitis pigmentosa
Phenotype additional clumped pigmentary retinal degeneration
Remarks -
Reference Netherlands:Nijmegen
Inheritance -
Consanguinity -
Families/Patients ?
# Reported 1
Geographic origin -
Ethnic origin -
Gender F
Age_onset 7y
Phenotype_onset -
Submitter Kornelia Neveling

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
Exon 11
DNA change c.1554G>A   (View in UCSC Genome Browser, Ensembl)
Var_pub_as -
RNA change r.(?)
Protein p.(?)
DB-ID ABCA4_00010
Variant remarks segregates in family
Origin germline (inherited)
Segregation yes
Reference Neveling 2012
Detection/Template DNA
Detection/Technique SEQ, SEQ-NG-S
Frequency -
RE-site -

2 entries in ABCA4

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Origin Descending
Ascending
Segregation Descending
Ascending
Reference Descending
Ascending
Detection/Template Descending
Ascending
Detection/Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
+/? Parent #1 11 c.1554G>A - r.(?) p.(?) ABCA4_00010 segregates in family germline (inherited) yes Neveling 2012 DNA SEQ, SEQ-NG-S - -
+/? Parent #2 29i c.4254-2A>G - r.spl p.? ABCA4_00011 segregates in family germline (inherited) yes Neveling 2012 DNA SEQ, SEQ-NG-S - -

1 entry in CA4

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Origin Descending
Ascending
Reference Descending
Ascending
Detection/Template Descending
Ascending
Detection/Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
-/? Parent #1 8 c.869C>T - r.(?) p.(P290L) CA4_00002 predicted benign; does not segregate with disease germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - -

1 entry in RP2

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Origin Descending
Ascending
Reference Descending
Ascending
Detection/Template Descending
Ascending
Detection/Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
-/? Parent #1 3 c.844C>T - r.(?) p.(R282W) RP2_00001 predicted benign; does not segregate with disease, not segregating with disease in other family germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - -