LOVD - Variant listings for SPRED1

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Patient data (#0064434)
Patient ID UAB-SPR351
Disease multiple CALMs
Phenotype additional 5-yo girl with 4 typical CALMs predominantly on R arm, segmental NF is possible, spor. Same missense mutation was found in the unaffected father
Remarks -
Ref_pat-pheno Messiaen UAB, unpublished
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 Probably no pathogenicity
Concluded pathogenicity Probably no pathogenicity
Exon 7
DNA change c.931T>C   (View in UCSC Genome Browser, Ensembl)
RNA change r.931u>c
Protein p.Phe311Leu
Domains -
Type substitution
Variant predicted effect missense
Genetic origin familial
Technique gDNA SEQ
Tissue blood
Template DNA
DB-ID SPRED1_00153
Reference Messiaen UAB, unpublished novel mutation
Variant remarks novel, dbSNP: rs375700452
do not use familial
Evol cons in C. jacchus yes
Evol cons in M. musculus yes
Evol cons in R. norvegicus yes
Evol cons in B. taurus yes
Evol cons in O. cuniculus yes
Evol cons in X. tropicalis no
Evol cons in D. rerio unknown
Evol cons in D. melanogaster no
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 7 c.931T>C r.931u>c p.Phe311Leu - substitution missense familial gDNA SEQ blood DNA SPRED1_00153 Messiaen UAB, unpublished novel mutation novel, dbSNP: rs375700452 familial yes yes yes yes yes no unknown no not available not available