LOVD - Variant listings for SEMA4A

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Patient data (#0014089)
Disease retinitis pigmentosa
Phenotype additional -
Remarks -
Reference Netherlands:Nijmegen
Inheritance -
Consanguinity -
Families/Patients ?
# Reported 1
Geographic origin -
Ethnic origin -
Gender F
Age_onset 50y
Phenotype_onset -
Submitter Kornelia Neveling

Variant data
Allele Parent #1
Reported pathogenicity No known pathogenicity
Concluded pathogenicity Unknown
Exon 15
DNA change c.2138G>A   (View in UCSC Genome Browser, Ensembl)
Var_pub_as -
RNA change r.(?)
Protein p.(Arg713Gln)
DB-ID SEMA4A_00002
Variant remarks predicted benign; does not segregate with disease, not segregating with disease in other families
Origin germline (inherited)
Reference Neveling 2012
Detection/Template DNA
Detection/Technique SEQ, SEQ-NG-S
Frequency -
RE-site -

1 entry in CACNA1F

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 13 c.1546G>C - r.(?) p.(R516G) CACNA1F_00010 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 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.2138G>A - r.(?) p.(Arg713Gln) SEMA4A_00002 predicted benign; does not segregate with disease, not segregating with disease in other families germline (inherited) Neveling 2012 DNA SEQ, SEQ-NG-S - -