LOVD - Variant listings for SPRED1

About this overview [Show]

Patient data (#0062223)
Patient ID KW-2
Disease Legius Syndrome
Phenotype additional 1-yo, multiple CALMs
Remarks -
Ref_pat-pheno Wimmer, MUI
Inherit germline (inherited)
Consang. -
Fam_Pat -
# Reported 1
Geographic origin -
Ethnic origin -
Gender M
Phenotype/Onset -
Histology -
Submitter Ludwine Messiaen

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 2
DNA change c.207+1G>T   (View in UCSC Genome Browser, Ensembl)
RNA change r.33_207del
Protein p.Asp11Glufs*52
Domains EVH-1
Type substitution
Variant predicted effect splicing
Genetic origin familial
Technique cDNA SEQ and gDNA SEQ
Tissue blood
Template DNA and RNA
DB-ID SPRED1_00100
Reference Messiaen UAB, unpublished novel mutation
Variant remarks novel
do not use familial
Evol cons in C. jacchus not applicable
Evol cons in M. musculus not applicable
Evol cons in R. norvegicus not applicable
Evol cons in B. taurus not applicable
Evol cons in O. cuniculus not applicable
Evol cons in X. tropicalis not applicable
Evol cons in D. rerio not applicable
Evol cons in D. melanogaster not applicable
PC12 functional assay -
ELK1 functional assay -

1 entry in SPRED1

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Domains Descending
Ascending
Type Descending
Ascending
Variant predicted effect Descending
Ascending
Genetic origin Descending
Ascending
Technique Descending
Ascending
Tissue Descending
Ascending
Template Descending
Ascending
DB-ID Descending
Ascending
Reference Descending
Ascending
Variant remarks Descending
Ascending
do not use Descending
Ascending
Evol cons in C. jacchus Descending
Ascending
Evol cons in M. musculus Descending
Ascending
Evol cons in R. norvegicus Descending
Ascending
Evol cons in B. taurus Descending
Ascending
Evol cons in O. cuniculus Descending
Ascending
Evol cons in X. tropicalis Descending
Ascending
Evol cons in D. rerio Descending
Ascending
Evol cons in D. melanogaster Descending
Ascending
PC12 functional assay Descending
Ascending
ELK1 functional assay Descending
Ascending
+/+ Unknown 2 c.207+1G>T r.33_207del p.Asp11Glufs*52 EVH-1 substitution splicing familial cDNA SEQ and gDNA SEQ blood DNA and RNA SPRED1_00100 Messiaen UAB, unpublished novel mutation novel familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -