Full data view for gene REST

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.274G>A r.(?) p.(Gly92Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.367C>G r.(?) p.(Pro123Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.422C>G r.(?) p.(Pro141Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.479G>C r.(?) p.(Arg160Pro) Unknown - pathogenic g.57777283G>C g.56911117G>C - - REST_000003 DNA from parents unavailable PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 - - Unknown - - - 0 - DNA SEQ - - WT - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 2 Generation family, 1 affected F no (United Kingdom (Great Britain)) - >00y11m 0 - - 1 Tamara Hettipathirana
+/. 2 c.645del r.(?) p.(Ile216Phefs*20) Unknown - pathogenic g.57777449del g.56911283del 642delC - REST_000006 paternal DNA unavailable PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 - - Unknown - 1/519 WT cases - 0 - DNA SEQ - - WT - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 2 generation family, 1 affected M no (United Kingdom (Great Britain)) - >03y11m 0 - - 1 Tamara Hettipathirana
+/. 2 c.736C>T r.(?) p.(Arg246*) Maternal (confirmed) - pathogenic g.57777540C>T g.56911374C>T - - REST_000004 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 - - Germline - - - 0 - DNA SEQ - - WT - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 2-generation family, 1 affected, unaffected carrier mother M no (United Kingdom (Great Britain)) - >03y04m 0 - - 1 Tamara Hettipathirana
+/. 2 c.831_832del r.(?) p.(Cys278Trpfs*18) Paternal (confirmed) - pathogenic g.57777635_57777636del g.56911469_56911470del 831_832delAT - REST_000002 - PubMed: Mahamdallie 2015, Journal: Mahamdallie 2015 - - Germline - 1/519 WT cases - 0 - DNA SEQ - - WT - PubMed: Mahamdallie 2015, Journal: Mahamdallie 2015 2-generation family, 1 affected, unaffected carrier father M no (United Kingdom (Great Britain)) - >03y02m 0 - - 1 Tamara Hettipathirana
+/. 2 c.831_832del r.(?) p.(Cys278Trpfs*18) Maternal (confirmed) - pathogenic g.57777635_57777636del g.56911469_56911470del 831_832delAT - REST_000002 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 - - Germline - 1/519 WT cases - 0 - DNA SEQ - - WT - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 2-generation family, 2 affected sisters, unaffected carrier mother F no (United Kingdom (Great Britain)) - >03y08m 0 - - 2 Tamara Hettipathirana
+/. 2 c.831_832del r.(?) p.(Cys278Trpfs*18) Maternal (confirmed) - pathogenic g.57777635_57777636del g.56911469_56911470del - - REST_000002 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 - - Germline - 1/519 WT cases - 0 - DNA SEQ - - WT - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 sister of FAM0482 F no (United Kingdom (Great Britain)) - >06y00m 0 - - 1 Tamara Hettipathirana
+/. 2i c.899-2A>G r.spl p.? Unknown - pathogenic g.57785951A>G g.56919785A>G - - REST_000005 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 - - Unknown - 1/519 WT cases - 0 - DNA SEQ - - WT - PubMed: Mahamadallie 2015 Journal: Mahamdallie 2015 2 generation family, 1 affected M no (United Kingdom (Great Britain)) - >02y10m 0 - - 1 Tamara Hettipathirana
+/. 3 c.965A>G r.(?) p.(His322Arg) Unknown - pathogenic g.57786019A>G g.56919853A>G - - REST_000010 - PubMed: Mahamdallie 2015, Journal: Mahamdallie 2015 - - Unknown - 1/519 WT cases - 0 - DNA SEQ - - WT - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 2 generation family, 1 affected M no (United Kingdom (Great Britain)) - >00y06m 0 - - 1 Tamara Hettipathirana
+/. 3 c.965A>G r.(?) p.(His322Arg) Paternal (confirmed) - pathogenic g.57786019A>G g.56919853A>G - - REST_000010 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 - - Germline - 3/519 WT cases - 0 - DNA SEQ - - WT - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 3-generation family, 3 affected first cousins, 2 unaffected carrier females, 1 unaffected carrier male F no (United Kingdom (Great Britain)) - >03y00m 0 - - 3 Tamara Hettipathirana
?/. - c.968T>G r.(?) p.(Met323Arg) Unknown - VUS g.57786022T>G - - - REST_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.977dup r.(?) p.(His326Glnfs*4) Unknown - pathogenic g.57786031dup g.56919865dup - - REST_000009 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 - - De novo - 1/519 WT cases - 0 - DNA SEQ - - WT - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 2 generation family, 1 affected M no (United Kingdom (Great Britain)) - >03y07m 0 - - 1 Tamara Hettipathirana
?/. - c.1151T>G r.(?) p.(Val384Gly) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.1236T>A r.(?) p.(His412Gln) Unknown - pathogenic g.57796260T>A g.56930094T>A - - REST_000008 paternal DNA unavailable PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 - - Unknown - 1/519 WT cases - 0 - DNA SEQ - - WT - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 2 generation family, 1 affected F no (United Kingdom (Great Britain)) - >04y06m 0 - - 1 Tamara Hettipathirana
-?/. - c.1615T>C r.(?) p.(Ser539Pro) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2013G>T r.(?) p.(Glu671Asp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2206C>T r.(?) p.(Pro736Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.2229_2276del r.(?) p.(Gln746_Val761del) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. 4 c.2390C>T r.(?) p.(Pro797Leu) Parent #1 - VUS g.57797414C>T g.56931248C>T - - REST_000001 - PubMed: Almomani 2011 - rs3796529 Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Almomani 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.2509C>G r.(?) p.(Leu837Val) Unknown - VUS g.57797533C>G - REST(NM_001363453.1):c.2509C>G (p.L837V) - REST_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.2770C>T r.(?) p.(Gln924*) Maternal (confirmed) - pathogenic g.57797794C>T g.56931628C>T - - REST_000007 - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 - - Germline - 1/519 WT cases - 0 - DNA SEQ - - WT - PubMed: Mahamdallie 2015 Journal: Mahamdallie 2015 2 generation family, 1 affected, unaffected carrier mother F no (United Kingdom (Great Britain)) - >03y05m 0 - - 1 Tamara Hettipathirana
?/. - c.3007C>A r.(?) p.(Gln1003Lys) Unknown - VUS g.57798031C>A - REST(NM_005612.4):c.3007C>A (p.Q1003K) - REST_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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