LOVD - Variant listings for SPRED1

About this overview [Show]

Patient data (#0062267)
Patient ID UAB-S144
Disease unknown, might have segmental NF
Phenotype additional 7.5-yo boy with #3 typical CALs on L lower quadrant, L inguinal freckling and autism. Segmental NF is possible
Remarks -
Ref_pat-pheno Messiaen, UAB
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 Probably no pathogenicity
Concluded pathogenicity Probably no pathogenicity
Exon 5
DNA change c.426A>G   (View in UCSC Genome Browser, Ensembl)
RNA change r.(?)
Protein p.(Ala142Ala)
Domains -
Type substitution
Variant predicted effect silent
Genetic origin de novo
Technique gDNA SEQ and MLPA
Tissue blood
Template DNA
DB-ID SPRED1_00127
Reference Messiaen UAB, unpublished novel mutation
Variant remarks novel
do not use sporadic
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 not available
ELK1 functional assay not available

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 5 c.426A>G r.(?) p.(Ala142Ala) - substitution silent de novo gDNA SEQ and MLPA blood DNA SPRED1_00127 Messiaen UAB, unpublished novel mutation novel sporadic not applicable not applicable not applicable not applicable not applicable not applicable not applicable not applicable not available not available