All variants in the SPRED1 gene

Information The variants shown are described using the NM_152594.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/? 2 c.124G>A r.124g>a p.Val42Ile - VUS g.38591665G>A g.38299464G>A - - SPRED1_000006 Domain: EVH-1 PubMed: Spencer 2011 - rs147204964 Unknown - - - 0 - Ludwine Messiaen
?/? 2 c.124G>A r.124g>a p.Val42Ile - VUS g.38591665G>A g.38299464G>A - - SPRED1_000006 Domain: EVH-1 PubMed: Spencer 2011 - rs147204964 Unknown - - - 0 - Ludwine Messiaen
?/? 2 c.124G>A r.124g>a p.Val42Ile - VUS g.38591665G>A g.38299464G>A - - SPRED1_000006 variant also present in the mother who has no signs / EvolCons: B_taurus:yes ; C_jacchus:yes; D_melanogaster:yes; D_rerio:yes; M_musculus:yes; O_cuniculus:yes; R_norvegicus:yes; X_tropicalis:yes / Domain: EVH-1 PubMed: Spencer 2011 - rs147204964 Germline - - - 0 - Ludwine Messiaen
?/. - c.124G>A r.(?) p.(Val42Ile) - VUS g.38591665G>A g.38299464G>A SPRED1(NM_152594.2):c.124G>A (p.(Val42Ile)) - SPRED1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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