LOVD - Variant listings for ABCA4

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Patient data (#0014042)
Disease retinitis pigmentosa
Phenotype additional -
Remarks -
Reference Netherlands:Nijmegen
Inheritance -
Consanguinity -
Families/Patients ?
# Reported 1
Geographic origin -
Ethnic origin -
Gender M
Age_onset 20y
Phenotype_onset -
Submitter Kornelia Neveling

Variant data
Allele Parent #2
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 48
DNA change c.6529G>A   (View in UCSC Genome Browser, Ensembl)
Var_pub_as -
RNA change r.(?)
Protein p.(D2177N)
DB-ID ABCA4_00012
Variant remarks predicted to affect function, but insufficient evidence for definite conclusion; does not segregate with disease
Origin germline (inherited)
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
Reference Descending
Ascending
Detection/Template Descending
Ascending
Detection/Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
?/? Parent #1 42 c.5843C>T - r.(?) p.(P1948L) ABCA4_00001 does not segregate with disease germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - -
+?/? Parent #2 48 c.6529G>A - r.(?) p.(D2177N) ABCA4_00012 predicted to affect function, but insufficient evidence for definite conclusion; does not segregate with disease germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - -

1 entry in CRB1

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
PolyPhen Descending
Ascending
SIFT Descending
Ascending
-/? Parent #1 2 c.484G>A - r.(?) p.V162M) CRB1_00035 predicted benign; does not segregate with disease germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - - - -

1 entry in SEMA4A

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 15 c.2044C>T - r.(?) p.(Pro682Ser) SEMA4A_00001 does not segregate with disease, not segregating with disease in other family germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - -

1 entry in TOPORS

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 2 c.58C>T - r.(?) p.(P20S) TOPORS_00002 predicted benign; does not segregate with disease, not segregating with disease in other families germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - -