All variants in the REST gene

Information The variants shown are described using the NM_005612.4 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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     
-?/. - c.274G>A r.(?) p.(Gly92Arg) - likely benign g.57777078G>A g.56910912G>A REST(NM_005612.4):c.274G>A (p.G92R) - REST_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.367C>G r.(?) p.(Pro123Ala) - VUS g.57777171C>G g.56911005C>G REST(NM_005612.4):c.367C>G (p.P123A) - REST_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.422C>G r.(?) p.(Pro141Arg) - likely benign g.57777226C>G g.56911060C>G REST(NM_001363453.1):c.422C>G (p.P141R) - REST_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.479G>C r.(?) p.(Arg160Pro) - pathogenic g.57777283G>C g.56911117G>C - - REST_000003 DNA from parents unavailable PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 - - Unknown - - - 0 - Tamara Hettipathirana
+/. 2 c.645del r.(?) p.(Ile216Phefs*20) - pathogenic g.57777449del g.56911283del 642delC - REST_000006 paternal DNA unavailable PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 - - Unknown - 1/519 WT cases - 0 - Tamara Hettipathirana
+/. 2 c.736C>T r.(?) p.(Arg246*) - pathogenic g.57777540C>T g.56911374C>T - - REST_000004 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 - - Germline - - - 0 - Tamara Hettipathirana
+/. 2 c.831_832del r.(?) p.(Cys278Trpfs*18) - pathogenic g.57777635_57777636del g.56911469_56911470del 831_832delAT - REST_000002 - PubMed: Mahamdallie 2015, Journal: Mahamdallie 2015 - - Germline - 1/519 WT cases - 0 - Tamara Hettipathirana
+/. 2 c.831_832del r.(?) p.(Cys278Trpfs*18) - pathogenic g.57777635_57777636del g.56911469_56911470del 831_832delAT - REST_000002 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 - - Germline - 1/519 WT cases - 0 - Tamara Hettipathirana
+/. 2 c.831_832del r.(?) p.(Cys278Trpfs*18) - pathogenic g.57777635_57777636del g.56911469_56911470del - - REST_000002 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 - - Germline - 1/519 WT cases - 0 - Tamara Hettipathirana
+/. 2i c.899-2A>G r.spl p.? - pathogenic g.57785951A>G g.56919785A>G - - REST_000005 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 - - Unknown - 1/519 WT cases - 0 - Tamara Hettipathirana
+/. 3 c.965A>G r.(?) p.(His322Arg) - pathogenic g.57786019A>G g.56919853A>G - - REST_000010 - PubMed: Mahamdallie 2015, Journal: Mahamdallie 2015 - - Unknown - 1/519 WT cases - 0 - Tamara Hettipathirana
+/. 3 c.965A>G r.(?) p.(His322Arg) - pathogenic g.57786019A>G g.56919853A>G - - REST_000010 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 - - Germline - 3/519 WT cases - 0 - Tamara Hettipathirana
?/. - c.968T>G r.(?) p.(Met323Arg) - VUS g.57786022T>G - - - REST_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 3 c.977dup r.(?) p.(His326Glnfs*4) - pathogenic g.57786031dup g.56919865dup - - REST_000009 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 - - De novo - 1/519 WT cases - 0 - Tamara Hettipathirana
?/. - c.1151T>G r.(?) p.(Val384Gly) - VUS g.57796175T>G g.56930009T>G REST(NM_005612.4):c.1151T>G (p.V384G) - REST_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4 c.1236T>A r.(?) p.(His412Gln) - pathogenic g.57796260T>A g.56930094T>A - - REST_000008 paternal DNA unavailable PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 - - Unknown - 1/519 WT cases - 0 - Tamara Hettipathirana
-?/. - c.1615T>C r.(?) p.(Ser539Pro) - likely benign g.57796639T>C g.56930473T>C REST(NM_001193508.1):c.1615T>C (p.(Ser539Pro)) - REST_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2013G>T r.(?) p.(Glu671Asp) - likely benign g.57797037G>T g.56930871G>T REST(NM_005612.4):c.2013G>T (p.E671D) - REST_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2206C>T r.(?) p.(Pro736Ser) - likely benign g.57797230C>T g.56931064C>T REST(NM_005612.4):c.2206C>T (p.P736S) - REST_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.2229_2276del r.(?) p.(Gln746_Val761del) - benign g.57797253_57797300del g.56931087_56931134del REST(NM_005612.4):c.2229_2276del (p.Q746_V761del) - REST_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. 4 c.2390C>T r.(?) p.(Pro797Leu) - VUS g.57797414C>T g.56931248C>T - - REST_000001 - PubMed: Almomani 2011 - rs3796529 Germline - - - 0 - Gerard C.P. Schaafsma
?/. - c.2509C>G r.(?) p.(Leu837Val) - VUS g.57797533C>G - REST(NM_001363453.1):c.2509C>G (p.L837V) - REST_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4 c.2770C>T r.(?) p.(Gln924*) - pathogenic g.57797794C>T g.56931628C>T - - REST_000007 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 - - Germline - 1/519 WT cases - 0 - Tamara Hettipathirana
?/. - c.3007C>A r.(?) p.(Gln1003Lys) - VUS g.57798031C>A - REST(NM_005612.4):c.3007C>A (p.Q1003K) - REST_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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