Unique variants in the GLRA2 gene

Information The variants shown are described using the NM_001118885.1 transcript reference sequence.

16 entries on 1 page. Showing entries 1 - 16.
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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.-111+2T>G r.spl? p.(=) - VUS g.14547643T>G g.14529521T>G - - GLRA2_000018 - - - - Germline - - - - - Yu Sun
?/. 3 - c.715+24dup r.(=) p.(=) - VUS g.14625414dup g.14607292dup - - GLRA2_000015, GLRA2_000022 - - - - Germline - - - - - Yu Sun
?/. 1 - c.715+26_715+28del r.(=) p.(=) - VUS g.14625416_14625418del g.14607294_14607296del - - GLRA2_000021 - - - - Germline - - - - - Yu Sun
?/. 2 - c.716-91del r.(=) p.(=) - VUS g.14627022del g.14608900del - - GLRA2_000019 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.718A>G r.(?) p.(Lys240Glu) - likely benign g.14627115A>G g.14608993A>G - - GLRA2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 3 8 c.747T>C r.(?) p.(=) - likely benign, VUS g.14627144T>C g.14609022T>C H249H - GLRA2_000012 recurrent, found 65 times PubMed: Tarpey 2009 - - Germline - 65/208 cases - - - Yu Sun, Lucy Raymond
?/. 1 - c.754C>T r.(?) p.(Arg252Cys) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.850C>A r.(?) p.(Pro284Thr) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.931-212G>A r.(=) p.(=) - VUS g.14708620G>A g.14690498G>A - - GLRA2_000001 - - - - Germline - - - - - Yu Sun
?/. 1 - c.931-4_931-3del r.spl? p.(=) - VUS g.14708828_14708829del g.14690706_14690707del - - GLRA2_000002 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.1010C>T r.(?) p.(Ala337Val) - 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 - - - - - VKGL-NL_Leiden
-?/., ?/. 2 10 c.1261A>G r.(?) p.(Ile421Val) - likely benign, VUS g.14748509A>G g.14730387A>G GLRA2(NM_001118886.1):c.1261A>G (p.I421V), I421V - GLRA2_000024 recurrent, found 2 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 2/208 cases - - - Lucy Raymond, VKGL-NL_Rotterdam
?/. 1 - c.1321T>C r.(?) p.(Tyr441His) - 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 - - - - - VKGL-NL_VUmc
?/. 1 - c.*452_*465del r.(=) p.(=) - VUS g.14749059_14749072del g.14730937_14730950del - - GLRA2_000003 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*734T>C r.(=) p.(=) - VUS g.14749341T>C g.14731219T>C - - GLRA2_000004 - - - - Germline - - - - - Yu Sun
?/. 2 - c.*997T>C r.(=) p.(=) - VUS g.14749604T>C g.14731482T>C - - GLRA2_000007 - - - - Germline - - - - - Yu Sun
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