Full data view for gene GLRA2

Information The variants shown are described using the NM_001118885.1 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.-111+2T>G r.spl? p.(=) Unknown - VUS g.14547643T>G g.14529521T>G - - GLRA2_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.715+24dup r.(=) p.(=) Unknown - VUS g.14625414dup g.14607292dup - - GLRA2_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.715+24dup r.(=) p.(=) Unknown - VUS g.14625414dup g.14607292dup - - GLRA2_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.715+24dup r.(=) p.(=) Unknown - VUS g.14625414dup g.14607292dup - - GLRA2_000022 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.715+26_715+28del r.(=) p.(=) Unknown - VUS g.14625416_14625418del g.14607294_14607296del - - GLRA2_000021 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.716-91del r.(=) p.(=) Unknown - VUS g.14627022del g.14608900del - - GLRA2_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.716-91del r.(=) p.(=) Unknown - VUS g.14627022del g.14608900del - - GLRA2_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.718A>G r.(?) p.(Lys240Glu) Unknown - likely benign g.14627115A>G g.14608993A>G - - GLRA2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.747T>C r.(?) p.(=) Maternal (inferred) - VUS g.14627144T>C g.14609022T>C - - GLRA2_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.747T>C r.(?) p.(=) Maternal (inferred) - VUS g.14627144T>C g.14609022T>C - - GLRA2_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 8 c.747T>C r.(?) p.(=) Parent #1 - likely benign g.14627144T>C g.14609022T>C H249H - GLRA2_000012 recurrent, found 65 times PubMed: Tarpey 2009 - - Germline - 65/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 65 Lucy Raymond
?/. - c.754C>T r.(?) p.(Arg252Cys) Unknown - VUS g.14627151C>T g.14609029C>T GLRA2(NM_001118886.1):c.754C>T (p.R252C) - GLRA2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.850C>A r.(?) p.(Pro284Thr) Unknown - VUS g.14627247C>A g.14609125C>A GLRA2(NM_001118886.1):c.850C>A (p.P284T) - GLRA2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.931-212G>A r.(=) p.(=) Maternal (inferred) - VUS g.14708620G>A g.14690498G>A - - GLRA2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.931-4_931-3del r.spl? p.(=) Unknown - VUS g.14708828_14708829del g.14690706_14690707del - - GLRA2_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1010C>T r.(?) p.(Ala337Val) Unknown - likely benign g.14708911C>T g.14690789C>T GLRA2(NM_001118885.1):c.1010C>T (p.(Ala337Val)) - GLRA2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.1261A>G r.(?) p.(Ile421Val) Parent #1 - VUS g.14748509A>G g.14730387A>G I421V - GLRA2_000024 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.1261A>G r.(?) p.(Ile421Val) Unknown - likely benign g.14748509A>G - GLRA2(NM_001118886.1):c.1261A>G (p.I421V) - GLRA2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1321T>C r.(?) p.(Tyr441His) Unknown - VUS g.14748569T>C g.14730447T>C GLRA2(NM_002063.3):c.1321T>C (p.Y441H) - GLRA2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*452_*465del r.(=) p.(=) Unknown - VUS g.14749059_14749072del g.14730937_14730950del - - GLRA2_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*734T>C r.(=) p.(=) Maternal (inferred) - VUS g.14749341T>C g.14731219T>C - - GLRA2_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*734T>C r.(=) p.(=) Maternal (inferred) - VUS g.14749341T>C g.14731219T>C - - GLRA2_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*997T>C r.(=) p.(=) Maternal (inferred) - VUS g.14749604T>C g.14731482T>C - - GLRA2_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.*997T>C r.(=) p.(=) Maternal (inferred) - VUS g.14749604T>C g.14731482T>C - - GLRA2_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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