All variants in the GABRQ gene

Information The variants shown are described using the NM_018558.2 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.46A>T r.(?) p.(Ile16Phe) - VUS g.151806702A>T g.152638248A>T GABRQ(NM_018558.3):c.46A>T (p.(Ile16Phe)) - GABRQ_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.150-209del r.(=) p.(=) - VUS g.151808630del g.152640170del - - GABRQ_000016 - - - - Germline - - - - - Yu Sun
?/. - c.150-209del r.(=) p.(=) - VUS g.151808630del g.152640170del - - GABRQ_000016 - - - - Germline - - - - - Yu Sun
?/. - c.150-199del r.(=) p.(=) - VUS g.151808640del - - - GABRQ_000011 - - - - Germline - - - - - Yu Sun
?/. - c.150-199del r.(=) p.(=) - VUS g.151808640del - - - GABRQ_000011 - - - - Germline - - - - - Yu Sun
?/. - c.218G>T r.(?) p.(Arg73Leu) - VUS g.151808907G>T g.152640446G>T GABRQ(NM_018558.3):c.218G>T (p.(Arg73Leu)) - GABRQ_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.610+24C>T r.(=) p.(=) - VUS g.151817820C>T g.152649357= - - GABRQ_000013 - - - - Germline - - - - - Yu Sun
?/. - c.610+24C>T r.(=) p.(=) - VUS g.151817820C>T g.152649357= - - GABRQ_000013 - - - - Germline - - - - - Yu Sun
?/. - c.611-197C>T r.(=) p.(=) - VUS g.151818008C>T g.152649545= - - GABRQ_000001 - - - - Germline - - - - - Yu Sun
?/. - c.611-197C>T r.(=) p.(=) - VUS g.151818008C>T g.152649545= - - GABRQ_000001 - - - - Germline - - - - - Yu Sun
-?/. - c.633C>T r.(?) p.(Ile211=) - likely benign g.151818227C>T - GABRQ(NM_018558.3):c.633C>T (p.I211=) - GABRQ_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.660C>T r.(=) p.(=) - likely benign g.151818254C>T g.152649791C>T N220N - GABRQ_000024 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.760C>T r.(?) p.(Arg254Cys) - VUS g.151818902C>T g.152650439C>T GABRQ(NM_018558.3):c.760C>T (p.R254C) - GABRQ_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.805C>T r.(?) p.(Leu269Phe) - VUS g.151818947C>T g.152650484C>T L269F - GABRQ_000025 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.901+280A>G r.(=) p.(=) - VUS g.151819323A>G g.152650860= - - GABRQ_000004 - - - - Germline - - - - - Yu Sun
?/. - c.901+280A>G r.(=) p.(=) - VUS g.151819323A>G g.152650860= - - GABRQ_000004 - - - - Germline - - - - - Yu Sun
?/. - c.1036T>A r.(?) p.(Tyr346Asn) - VUS g.151820123T>A - GABRQ(NM_018558.3):c.1036T>A (p.Y346N) - GABRQ_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1090C>T r.(?) p.(Arg364Ter) - VUS g.151820177C>T g.152651714C>T GABRQ(NM_018558.3):c.1090C>T (p.R364*, p.?) - GABRQ_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1090C>T r.(?) p.(Arg364Ter) - VUS g.151820177C>T g.152651714C>T GABRQ(NM_018558.3):c.1090C>T (p.R364*, p.?) - GABRQ_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1090C>T r.(?) p.(Arg364Ter) - VUS g.151820177C>T g.152651714C>T GABRQ(NM_018558.3):c.1090C>T (p.R364*, p.?) - GABRQ_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1123T>A r.(?) p.(Tyr375Asn) - VUS g.151820210T>A g.152651747T>A GABRQ(NM_018558.3):c.1123T>A (p.Y375N) - GABRQ_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1206C>G r.(?) p.(Thr402=) - likely benign g.151821051C>G - GABRQ(NM_018558.3):c.1206C>G (p.T402=) - GABRQ_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1432T>A r.(?) p.(Phe478Ile) - VUS g.151821277T>A g.152652814= - - GABRQ_000006 - - - - Germline - - - - - Yu Sun
?/. - c.1432T>A r.(?) p.(Phe478Ile) - VUS g.151821277T>A g.152652814= - - GABRQ_000006 - - - - Germline - - - - - Yu Sun
-?/. - c.1432_1434del r.(?) p.(Phe478del) - likely benign g.151821277_151821279del g.152652814_152652816del GABRQ(NM_018558.3):c.1430_1432del (p.(Phe478del)) - GABRQ_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1464C>T r.(=) p.(=) - likely benign g.151821309C>T g.152652846C>T A488A - GABRQ_000026 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.1465C>T r.(?) p.(His489Tyr) - VUS g.151821310C>T g.152652847C>T GABRQ(NM_018558.3):c.1465C>T (p.H489Y) - GABRQ_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1502A>G r.(?) p.(Asn501Ser) - VUS g.151821347A>G g.152652884A>G GABRQ(NM_018558.3):c.1502A>G (p.N501S) - GABRQ_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1567G>A r.(?) p.(Gly523Ser) - VUS g.151821412G>A g.152652949G>A GABRQ(NM_018558.3):c.1567G>A (p.(Gly523Ser)) - GABRQ_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1586A>C r.(?) p.(Glu529Ala) - VUS g.151821431A>C g.152652968A>C GABRQ(NM_018558.3):c.1586A>C (p.(Glu529Ala)) - GABRQ_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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