LOVD - Variant listings for SPRED1

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Patient data (#0062248)
Patient ID Fr-10
Disease Legius Syndrome
Phenotype additional 10-yo, multiple CALMs, axillary and inguinal freckling. Paternal halfbrother with multiple CALMs and axillary and inguinal freckling, carries the SPRED1 mutation.
Remarks -
Ref_pat-pheno Pasmant, Paris
Inherit germline (inherited)
Consang. -
Fam_Pat -
# Reported 1
Geographic origin -
Ethnic origin -
Gender F
Phenotype/Onset -
Histology -
Submitter Ludwine Messiaen

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 4
DNA change c.389C>A   (View in UCSC Genome Browser, Ensembl)
RNA change r.(?)
Protein p.(Ser130*)
Domains -
Type substitution
Variant predicted effect nonsense
Genetic origin familial
Technique gDNA SEQ
Tissue blood
Template DNA
DB-ID SPRED1_00109
Reference Messiaen UAB, unpublished novel mutation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 4 c.389C>A r.(?) p.(Ser130*) - substitution nonsense familial gDNA SEQ blood DNA SPRED1_00109 Messiaen UAB, unpublished novel mutation novel familial not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable - -