Full data view for gene GLRA4

Information The variants shown are described using the NM_001024452.2 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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.123C>T r.(?) p.(Pro41=) Unknown - likely benign g.102979905G>A g.103724977G>A GLRA4(NM_001172285.1):c.123C>T (p.P41=) - GLRA4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.160C>T r.(?) p.(Arg54Ter) Unknown - VUS g.102979868G>A g.103724940G>A GLRA4(NM_001024452.2):c.160C>T (p.(Arg54Ter)) - GLRA4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.253A>G r.(?) p.(Ile85Val) Parent #1 - VUS g.102979486T>C g.103724558T>C I85V - GLRA4_000015 recurrent, found 165 times PubMed: Tarpey 2009 - - Germline - 165/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 165 Lucy Raymond
?/. - c.313C>T r.(?) p.(Pro105Ser) Unknown - VUS g.102979187G>A g.103724259G>A GLRA4(NM_001024452.2):c.313C>T (p.(Pro105Ser)) - GLRA4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4 c.313C>T r.(?) p.(Pro105Ser) Parent #1 - VUS g.102979187G>A g.103724259G>A P105S - GLRA4_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. 4 c.432G>C r.(?) p.(Glu144Asp) Parent #1 - VUS g.102979068C>G g.103724140C>G E144D - GLRA4_000014 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.433G>A r.(?) p.(Val145Met) Unknown - VUS g.102979067C>T g.103724139C>T GLRA4(NM_001024452.2):c.433G>A (p.(Val145Met)) - GLRA4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 5 c.555C>G r.(?) p.(=) Parent #1 - likely benign g.102978806G>C g.103723878G>C T185T - GLRA4_000013 recurrent, found 51 times PubMed: Tarpey 2009 - - Germline - 51/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 51 Lucy Raymond
-?/. - c.718+3A>G r.spl? p.? Unknown - likely benign g.102977077T>C - GLRA4(NM_001172285.1):c.718+3A>G - GLRA4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.734T>A r.(?) p.(Ile245Asn) Unknown - VUS g.102974184A>T g.103719256A>T GLRA4(NM_001172285.1):c.734T>A (p.I245N) - GLRA4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.757C>T r.(?) p.(Arg253Trp) Unknown - likely benign g.102974161G>A g.103719233G>A GLRA4(NM_001172285.1):c.757C>T (p.R253W) - GLRA4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.766G>A r.(?) p.(Gly256Ser) Unknown - VUS g.102974152C>T g.103719224C>T GLRA4(NM_001172285.1):c.766G>A (p.G256S) - GLRA4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.862G>A r.(?) p.(Val288Met) Unknown - VUS g.102974056C>T g.103719128C>T GLRA4(NM_001172285.1):c.862G>A (p.V288M) - GLRA4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.883G>A r.(?) p.(Val295Met) Unknown - likely benign g.102974035C>T g.103719107C>T GLRA4(NM_001172285.1):c.883G>A (p.V295M) - GLRA4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.933+56T>C r.(=) p.(=) Unknown - VUS g.102973929A>G g.103719001A>G GLRA4(NM_001172285.1):c.989T>C (p.I330T) - GLRA4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.933+70C>T r.(=) p.(=) Unknown - likely benign g.102973915G>A g.103718987G>A GLRA4(NM_001172285.1):c.1003C>T (p.(Pro335Ser)) - GLRA4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.934-133G>T r.(=) p.(=) Unknown - likely benign g.102968730C>A g.103713802C>A TMEM31(NM_182541.2):c.311C>A (p.A104D, p.(Ala104Asp)) - GLRA4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.934-133G>T r.(=) p.(=) Unknown - likely benign g.102968730C>A - TMEM31(NM_182541.2):c.311C>A (p.A104D, p.(Ala104Asp)) - GLRA4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.985G>T r.(?) p.(Val329Leu) Unknown - benign g.102968546C>A g.103713618C>A GLRA4(NM_001024452.2):c.985G>T (p.V329L), TMEM31(NM_182541.2):c.127C>A (p.Q43K) - GLRA4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.986T>A r.(?) p.(Val329Glu) Unknown - benign g.102968545A>T g.103713617A>T GLRA4(NM_001024452.2):c.986T>A (p.V329E) - GLRA4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.987G>A r.(?) p.(Val329=) Unknown - benign g.102968544C>T g.103713616C>T GLRA4(NM_001024452.2):c.987G>A (p.V329=), TMEM31(NM_182541.2):c.125C>T (p.T42I) - GLRA4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1031G>A r.(?) p.(Arg344His) Unknown - VUS g.102968500C>T - GLRA4(NM_001024452.2):c.1031G>A (p.R344H) - GLRA4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1083+2T>C r.spl? p.? Unknown - VUS g.102968446A>G - GLRA4(NM_001024452.2):c.1083+2T>C - GLRA4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1121G>A r.(?) p.(Arg374His) Unknown - likely benign g.102962405C>T g.103707477C>T GLRA4(NM_001024452.2):c.1121G>A (p.(Arg374His)) - GLRA4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1139A>G r.(?) p.(His380Arg) Unknown - likely benign g.102962387T>C g.103707459T>C GLRA4(NM_001024452.2):c.1139A>G (p.(His380Arg)) - GLRA4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1232C>T r.(?) p.(Thr411Met) Unknown - likely benign g.102962294G>A g.103707366G>A GLRA4(NM_001024452.2):c.1232C>T (p.T411M) - GLRA4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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