All variants in the GLRA1 gene

Information The variants shown are described using the NM_001146040.1 transcript reference sequence.

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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     
-/- 1 c.-196C>T r.(?) p.(=) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
+/+ _1_6i c.(?_-1)_(697+1_698-1)del r.0? p.0? - pathogenic g.(151231166_151234600del)_(151304111_?)del - ex1-6del - GLRA1_000013 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
+/+ _1_6i c.(?_-1)_(697+1_698-1)del r.0? p.0? - pathogenic g.(151231166_151234600del)_(151304111_?)del - ex1-6del - GLRA1_000013 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-/- 1 c.56+43G>A r.(?) p.(=) - benign g.151304012C>T g.151924451C>T - - GLRA1_000004 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-?/. - c.57-12C>T r.(=) p.(=) - likely benign g.151272011G>A g.151892450G>A GLRA1(NM_001146040.2):c.57-12C>T - GLRA1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/? 2 c.117G>C r.(?) p.(Ser39Ser) - VUS g.151271939C>G g.151892378C>G 413G>C - GLRA1_000001 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-?/. - c.117G>C r.(?) p.(Ser39=) - likely benign g.151271939C>G - GLRA1(NM_000171.4):c.117G>C (p.S39=) - GLRA1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.185-9G>A r.(=) p.(=) - benign g.151266358C>T g.151886797C>T GLRA1(NM_001146040.2):c.185-9G>A - GLRA1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.193G>A r.(?) p.(Val65Met) - VUS g.151266341C>T - GLRA1(NM_001146040.1):c.193G>A (p.V65M) - GLRA1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.199G>A r.(?) p.(Val67Met) - likely benign g.151266335C>T g.151886774C>T - - GLRA1_000030 - - - - Germline - - - 0 - Ivan Milenkovic
?/. - c.199G>A r.(?) p.(Val67Met) - VUS g.151266335C>T g.151886774C>T GLRA1(NM_001146040.2):c.199G>A (p.V67M) - GLRA1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.243G>A r.(?) p.(Glu81=) - likely benign g.151266291C>T - GLRA1(NM_001146040.1):c.243G>A (p.E81=) - GLRA1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 5 c.299G>A r.(?) p.(Arg100His) - pathogenic g.151239523C>T g.151859962C>T 595G>A - GLRA1_000003 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
?/. - c.305C>T r.(?) p.(Ala102Val) - VUS g.151239517G>A g.151859956G>A GLRA1(NM_000171.3):c.305C>T (p.(Ala102Val)) - GLRA1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. 4i c.476+40A>G r.(?) p.(=) - VUS g.151239306T>C g.151859745T>C - - GLRA1_000019 - - - - Germline - - - - - Yu Sun
?/. 4i c.476+40A>G r.(?) p.(=) - VUS g.151239306T>C g.151859745T>C - - GLRA1_000019 - - - - Germline - - - - - Yu Sun
?/. 4i c.476+56C>T r.(?) p.(=) - VUS g.151239290G>A g.151859729G>A - - GLRA1_000018 - - - - Germline - - - - - Yu Sun
?/. 4i c.476+56C>T r.(?) p.(=) - VUS g.151239290G>A g.151859729G>A - - GLRA1_000018 - - - - Germline - - - - - Yu Sun
-?/. - c.476+111A>C r.(=) p.(=) - likely benign g.151239235T>G g.151859674T>G GLRA1(NM_001146040.2):c.476+111A>C - GLRA1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. 4i c.477-173A>G r.(?) p.(=) - VUS g.151236117T>C g.151856556T>C - - GLRA1_000017 - - - - Germline - - - - - Yu Sun
?/. 4i c.477-95T>C r.(?) p.(=) - VUS g.151236039A>G g.151856478A>G - - GLRA1_000016 - - - - Germline - - - - - Yu Sun
-?/. - c.559+8T>G r.(=) p.(=) - likely benign g.151235854A>C g.151856293A>C GLRA1(NM_001146040.2):c.559+8T>G - GLRA1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.560-8C>T r.(=) p.(=) - likely benign g.151234746G>A - GLRA1(NM_001146040.1):c.560-8C>T - GLRA1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 7 c.767A>G r.(?) p.(Tyr256Cys) - pathogenic g.151231096T>C g.151851535T>C 1063A>G - GLRA1_000005 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
+/+ 7 c.767A>G r.(?) p.(Tyr256Cys) - pathogenic g.151231096T>C g.151851535T>C 1063A>G - GLRA1_000005 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
+/+ 7 c.777C>G r.(?) p.(Ser259Arg) - pathogenic g.151231086G>C g.151851525G>C C1073G - GLRA1_000006 - Humeny [2002] - - Germline - - - 0 - Johan den Dunnen
+/+ 7 c.832C>A r.(?) p.(Pro278Thr) - pathogenic g.151231031G>T g.151851470G>T C1128A - GLRA1_000007 - Saul [1999] - - Germline - - - 0 - Johan den Dunnen
+?/. 7 c.839G>A r.(?) p.(Arg280His) - likely pathogenic g.151231024C>T g.151851463C>T - - GLRA1_000039 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
+/+ 7 c.884G>A r.(?) p.(Ser295Asn) - pathogenic g.151230979C>T g.151851418C>T 1180G>A - GLRA1_000008 - Becker [2007] - - Germline - - - 0 - Johan den Dunnen
+/+ 7 c.892T>A r.(?) p.(Ser298Thr) - pathogenic g.151230971A>T g.151851410A>T T1188A - GLRA1_000009 - Lapunzina [2003] - - Germline - - - 0 - Johan den Dunnen
+/+ 7 c.896G>A r.(?) p.(Arg299Gln) - pathogenic g.151230967C>T g.151851406C>T 1192G>A - GLRA1_000010 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
+/+ 7 c.896G>A r.(?) p.(Arg299Gln) - pathogenic g.151230967C>T g.151851406C>T 1192G>A - GLRA1_000010 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
+/+ 7 c.896G>A r.(?) p.(Arg299Gln) - pathogenic g.151230967C>T g.151851406C>T 1192G>A - GLRA1_000010 - Elmslie [1996] - - Germline - - - 0 - Johan den Dunnen
+/+ 7 c.896G>A r.(?) p.(Arg299Gln) - pathogenic g.151230967C>T g.151851406C>T 1192G>A - GLRA1_000010 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.896G>A r.(?) p.(Arg299Gln) ACMG pathogenic (dominant) g.151230967C>T - - - GLRA1_000010 ACMG: PS4, PM2, PM5, PP1, PP4 class 5 PMID: 8298642, 8733061, 28138086, 28122427, 7518444, 7881416, 8298642) - - Germline ? - - - - Andreas Laner
+/+ 7 c.910A>C r.(?) p.(Lys304Gln) - pathogenic g.151230953T>G g.151851392T>G 1206A>C - GLRA1_000015 - Kang [2008] - - Germline - - - 0 - Johan den Dunnen
+/+ 7 c.910A>G r.(?) p.(Lys304Glu) - pathogenic g.151230953T>C g.151851392T>C 1206A>G - GLRA1_000011 - Elmslie [1996] - - Germline - - - 0 - Johan den Dunnen
-?/. - c.915G>A r.(?) p.(Val305=) - likely benign g.151208626C>T g.151829065C>T GLRA1(NM_001146040.2):c.915G>A (p.V305=) - GLRA1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/? 8 c.917C>A r.(?) p.(Ser306Tyr) - VUS g.151208624G>T g.151829063G>T 1213C>A - GLRA1_000012 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
+/. - c.942G>A r.(?) p.(Trp314*) - pathogenic g.151208599C>T g.151829038C>T - - GLRA1_000029 - - - - Germline - - - 0 - Ivan Milenkovic
-?/. - c.993C>T r.(?) p.(Ala331=) - likely benign g.151208548G>A - GLRA1(NM_000171.4):c.993C>T (p.A331=) - GLRA1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.995T>A r.(?) p.(Val332Asp) - VUS g.151208546A>T g.151828985A>T - - GLRA1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 8 c.1041G>A r.(?) p.(Arg347Arg) - VUS g.151208500C>T g.151828939C>T 1337G>A - GLRA1_000014 - Leiden, unpublished - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1041G>A r.(=) p.(=) - likely benign g.151208500C>T g.151828939C>T - - GLRA1_000014 21 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs75463357 Germline - 21/2790 individuals - 0 - Mohammed Faruq
-/. - c.1060-149A>T r.(=) p.(=) - benign g.151202697T>A g.151823136T>A GLRA1(NM_001146040.2):c.1060-149A>T - GLRA1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1132G>A r.(?) p.(Gly378Ser) - benign g.151202476C>T g.151822915C>T GLRA1(NM_001146040.2):c.1132G>A (p.G378S) - GLRA1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1132G>A r.(?) p.(Gly378Ser) - benign g.151202476C>T g.151822915C>T GLRA1(NM_001146040.2):c.1132G>A (p.G378S) - GLRA1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1141T>C r.(?) p.(Cys381Arg) - VUS g.151202467A>G g.151822906A>G - - GLRA1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1190A>C r.(?) p.(Asn397Thr) - likely benign g.151202418T>G - GLRA1(NM_001146040.1):c.1190A>C (p.N397T) - GLRA1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1198A>G r.(?) p.(Asn400Asp) - VUS g.151202410T>C g.151822849T>C - - GLRA1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1205C>T r.(?) p.(Pro402Leu) - likely benign g.151202403G>A g.151822842G>A GLRA1(NM_001146040.2):c.1205C>T (p.P402L) - GLRA1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.1264A>C r.(?) p.(Lys422Gln) - VUS g.151202344T>G g.151822783T>G GLRA1(NM_001146040.2):c.1264A>C (p.K422Q) - GLRA1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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