Unique variants in the VASP gene

Information The variants shown are described using the NM_003370.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Reported     

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     
-?/. 1 - c.1004C>T r.(?) p.(Thr335Met) - likely benign g.46027875C>T - VASP(NM_003370.3):c.1004C>T (p.(Thr335Met)) - OPA3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.*2903T>A r.(=) p.(=) - benign g.46032338T>A g.45529080T>A OPA3(NM_001017989.3):c.519A>T (p.P173=) - OPA3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.*2964C>T r.(=) p.(=) - VUS g.46032399C>T - OPA3(NM_001017989.3):c.458G>A (p.R153H) - OPA3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/., ?/. 3 - c.*2979del r.(?) p.(=) - pathogenic, VUS g.46032414del g.45529156del OPA3(NM_001017989.2):c.445delC (p.L149Wfs*67), OPA3(NM_001017989.3):c.445delC (p.L149Wfs*67) - OPA3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 1 - c.*3008C>T r.(=) p.(=) - likely benign g.46032443C>T - OPA3(NM_001017989.2):c.414G>A (p.A138=) - OPA3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*3129A>G r.(=) p.(=) - VUS g.46032564A>G - OPA3(NM_001017989.3):c.293T>C (p.M98T) - OPA3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 2 - c.*3238C>T r.(=) p.(=) - likely benign g.46032673C>T g.45529415C>T OPA3(NM_001017989.2):c.184G>A (p.G62S), OPA3(NM_001017989.3):c.184G>A (p.G62S) - OPA3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
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