Full data view for gene GABRE

Information The variants shown are described using the NM_004961.3 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.5_7del r.(?) p.(Leu2del) Unknown - likely benign g.151143094_151143096del - GABRE(NM_004961.4):c.5_7del (p.(Leu2del)) - GABRE_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.32G>T r.(?) p.(Gly11Val) Unknown - likely benign g.151143066C>A g.151974594C>A GABRE(NM_004961.3):c.32G>T (p.G11V) - GABRE_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.61G>A r.(?) p.(Glu21Lys) Unknown - likely benign g.151138870C>T g.151970398C>T GABRE(NM_004961.3):c.61G>A (p.(Glu21Lys)) - GABRE_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.113A>G r.(?) p.(Tyr38Cys) Unknown - likely benign g.151138818T>C g.151970346T>C GABRE(NM_004961.3):c.113A>G (p.(Tyr38Cys)) - GABRE_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.154G>A r.(?) p.(Glu52Lys) Unknown - likely benign g.151138777C>T g.151970305C>T GABRE(NM_004961.3):c.154G>A (p.E52K, p.(Glu52Lys)) - GABRE_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.154G>A r.(?) p.(Glu52Lys) Unknown - likely benign g.151138777C>T g.151970305C>T GABRE(NM_004961.3):c.154G>A (p.E52K, p.(Glu52Lys)) - GABRE_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.186G>A r.(=) p.(=) Parent #1 - VUS g.151138745C>T g.151970273C>T G62G - GABRE_000018 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.187A>C r.(?) p.(Ser63Arg) Unknown - likely benign g.151138744T>G - GABRE(NM_004961.4):c.187A>C (p.(Ser63Arg)) - GABRE_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.196G>A r.(?) p.(Gly66Ser) Unknown - likely benign g.151138735C>T g.151970263C>T GABRE(NM_004961.3):c.196G>A (p.G66S) - GABRE_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.259C>T r.(?) p.(Arg87Cys) Unknown - VUS g.151138672G>A - GABRE(NM_004961.3):c.259C>T (p.R87C) - GABRE_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.304T>G r.(?) p.(Ser102Ala) Maternal (inferred) - VUS g.151138179A>C g.151969707A>C - - GABRE_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.304T>G r.(?) p.(Ser102Ala) Maternal (inferred) - VUS g.151138179A>C g.151969707A>C - - GABRE_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.304T>G r.(?) p.(Ser102Ala) Parent #1 - VUS g.151138179A>C g.151969707A>C - - GABRE_000004 recurrent, found 96 times PubMed: Tarpey 2009 - - Germline - 96/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 96 Lucy Raymond
?/. - c.343-225T>C r.(=) p.(=) Maternal (inferred) - VUS g.151131340A>G g.151962868A>G - - GABRE_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.343-225T>C r.(=) p.(=) Maternal (inferred) - VUS g.151131340A>G g.151962868A>G - - GABRE_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.343-2A>G r.spl? p.? Unknown - VUS g.151131117T>C - GABRE(NM_004961.3):c.343-2A>G (p.?) - GABRE_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.399C>A r.(?) p.(Tyr133Ter) Unknown - VUS g.151131059G>T g.151962587G>T GABRE(NM_004961.3):c.399C>A (p.Y133*) - GABRE_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.564-166A>G r.(=) p.(=) Maternal (inferred) - VUS g.151130003T>C g.151961531T>C - - GABRE_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.564-166A>G r.(=) p.(=) Maternal (inferred) - VUS g.151130003T>C g.151961531T>C - - GABRE_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.571A>G r.(?) p.(Ile191Val) Unknown - VUS g.151129830T>C - GABRE(NM_004961.3):c.571A>G (p.(Ile191Val)) - GABRE_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.579C>T r.(=) p.(=) Parent #1 - VUS g.151129822G>A g.151961350G>A A193A - GABRE_000017 recurrent, found 10 times PubMed: Tarpey 2009 - - Germline - 10/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 10 Lucy Raymond
?/. - c.647-314A>T r.(=) p.(=) Maternal (inferred) - VUS g.151128762T>A g.151960290T>A - - GABRE_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.647-314A>T r.(=) p.(=) Maternal (inferred) - VUS g.151128762T>A g.151960290T>A - - GABRE_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.714C>A r.(?) p.(Asn238Lys) Unknown - likely benign g.151128381G>T g.151959909G>T GABRE(NM_004961.3):c.714C>A (p.N238K) - GABRE_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.795G>C r.(?) p.(Met265Ile) Unknown - VUS g.151124322C>G g.151955850C>G GABRE(NM_004961.3):c.795G>C (p.(Met265Ile)) - GABRE_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.833G>C r.(?) p.(Gly278Ala) Unknown - likely benign g.151124284C>G g.151955812C>G GABRE(NM_004961.3):c.833G>C (p.(Gly278Ala)) - GABRE_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1162G>A r.(?) p.(Ala388Thr) Unknown - likely benign g.151123532C>T g.151955060C>T GABRE(NM_004961.3):c.1162G>A (p.A388T, p.(Ala388Thr)) - GABRE_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1162G>A r.(?) p.(Ala388Thr) Unknown - likely benign g.151123532C>T g.151955060C>T GABRE(NM_004961.3):c.1162G>A (p.A388T, p.(Ala388Thr)) - GABRE_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1259G>A r.(?) p.(Arg420His) Unknown - likely benign g.151123435C>T g.151954963C>T GABRE(NM_004961.3):c.1259G>A (p.R420H) - GABRE_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1262C>T r.(?) p.(Pro421Leu) Unknown - likely benign g.151123432G>A - GABRE(NM_004961.4):c.1262C>T (p.(Pro421Leu)) - GABRE_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1325C>A r.(?) p.(Ser442Tyr) Unknown - VUS g.151123369G>T g.151954897G>T GABRE(NM_004961.3):c.1325C>A (p.(Ser442Tyr)) - GABRE_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1415G>A r.(?) p.(Arg472His) Unknown - likely benign g.151123279C>T - GABRE(NM_004961.4):c.1415G>A (p.(Arg472His)) - GABRE_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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