Full data view for gene GLRA1

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

70 entries on 1 page. Showing entries 1 - 70.
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Effect     

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AscendingDNA change (cDNA)     

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Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

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Methylation     

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Technique     

Tissue     

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Disease     

ID_report     

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-/- 1 c.-196C>T r.(?) p.(=) Unknown - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) Unknown - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) Both (homozygous) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) Unknown - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) Unknown - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) Both (homozygous) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) Both (homozygous) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) Unknown - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) Unknown - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) Unknown - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) Unknown - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) Both (homozygous) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) Unknown - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) Both (homozygous) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) Both (homozygous) - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) Unknown - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) Unknown - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) Unknown - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.-196C>T r.(?) p.(=) Unknown - benign g.151304306G>A g.151924745G>A 1-196C>T - GLRA1_000002 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/+ _1_6i c.(?_-1)_(697+1_698-1)del r.0? p.0? Both (homozygous) - pathogenic g.(151231166_151234600del)_(151304111_?)del - ex1-6del - GLRA1_000013 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/+ _1_6i c.(?_-1)_(697+1_698-1)del r.0? p.0? Both (homozygous) - pathogenic g.(151231166_151234600del)_(151304111_?)del - ex1-6del - GLRA1_000013 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-/- 1 c.56+43G>A r.(?) p.(=) Unknown - benign g.151304012C>T g.151924451C>T - - GLRA1_000004 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-?/. - c.57-12C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.117G>C r.(?) p.(Ser39Ser) Unknown - VUS g.151271939C>G g.151892378C>G 413G>C - GLRA1_000001 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-?/. - c.117G>C r.(?) p.(Ser39=) Unknown - likely benign g.151271939C>G - GLRA1(NM_000171.4):c.117G>C (p.S39=) - GLRA1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.185-9G>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.193G>A r.(?) p.(Val65Met) Unknown - VUS g.151266341C>T - GLRA1(NM_001146040.1):c.193G>A (p.V65M) - GLRA1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.199G>A r.(?) p.(Val67Met) Unknown - likely benign g.151266335C>T g.151886774C>T - - GLRA1_000030 - - - - Germline - - - 0 - DNA ? - - HKPX - - - - - - - - 0 - - 1 Ivan Milenkovic
?/. - c.199G>A r.(?) p.(Val67Met) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.243G>A r.(?) p.(Glu81=) Unknown - likely benign g.151266291C>T - GLRA1(NM_001146040.1):c.243G>A (p.E81=) - GLRA1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.299G>A r.(?) p.(Arg100His) Unknown - pathogenic g.151239523C>T g.151859962C>T 595G>A - GLRA1_000003 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
?/. - c.305C>T r.(?) p.(Ala102Val) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. 4i c.476+40A>G r.(?) p.(=) Both (homozygous) - VUS g.151239306T>C g.151859745T>C - - GLRA1_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 4i c.476+40A>G r.(?) p.(=) Unknown - VUS g.151239306T>C g.151859745T>C - - GLRA1_000019 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 4i c.476+56C>T r.(?) p.(=) Both (homozygous) - VUS g.151239290G>A g.151859729G>A - - GLRA1_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 4i c.476+56C>T r.(?) p.(=) Unknown - VUS g.151239290G>A g.151859729G>A - - GLRA1_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.476+111A>C r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. 4i c.477-173A>G r.(?) p.(=) Both (homozygous) - VUS g.151236117T>C g.151856556T>C - - GLRA1_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. 4i c.477-95T>C r.(?) p.(=) Both (homozygous) - VUS g.151236039A>G g.151856478A>G - - GLRA1_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.559+8T>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.560-8C>T r.(=) p.(=) Unknown - likely benign g.151234746G>A - GLRA1(NM_001146040.1):c.560-8C>T - GLRA1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.767A>G r.(?) p.(Tyr256Cys) Unknown - pathogenic g.151231096T>C g.151851535T>C 1063A>G - GLRA1_000005 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/+ 7 c.767A>G r.(?) p.(Tyr256Cys) Both (homozygous) - pathogenic g.151231096T>C g.151851535T>C 1063A>G - GLRA1_000005 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/+ 7 c.777C>G r.(?) p.(Ser259Arg) Unknown - pathogenic g.151231086G>C g.151851525G>C C1073G - GLRA1_000006 - Humeny [2002] - - Germline - - - 0 - DNA SEQ - - HKPX - Humeny [2002] - - - - - - 0 - - 1 Johan den Dunnen
+/+ 7 c.832C>A r.(?) p.(Pro278Thr) Unknown - pathogenic g.151231031G>T g.151851470G>T C1128A - GLRA1_000007 - Saul [1999] - - Germline - - - 0 - DNA SEQ - - HKPX - Saul [1999] In a pedigree showing dominant transmission of hyperekplexia, - - - - - 0 - - 1 Johan den Dunnen
+?/. 7 c.839G>A r.(?) p.(Arg280His) Both (homozygous) - likely pathogenic g.151231024C>T g.151851463C>T - - GLRA1_000039 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-4666 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
+/+ 7 c.884G>A r.(?) p.(Ser295Asn) Unknown - pathogenic g.151230979C>T g.151851418C>T 1180G>A - GLRA1_000008 - Becker [2007] - - Germline - - - 0 - DNA SEQ - - HKPX - Becker [2007] - - - - - - 0 - - 1 Johan den Dunnen
+/+ 7 c.892T>A r.(?) p.(Ser298Thr) Unknown - pathogenic g.151230971A>T g.151851410A>T T1188A - GLRA1_000009 - Lapunzina [2003] - - Germline - - - 0 - DNA SEQ - - HKPX - Lapunzina [2003] Mutations in this hot spot domain of GLRA1 are frequent in autosomal dominant hyperekplexia but are not usually seen in the autosomal recessive form of the disease in which both the M1 and the carboxy terminal domains have been implicated. - - - - - 0 - - 1 Johan den Dunnen
+/+ 7 c.896G>A r.(?) p.(Arg299Gln) Unknown - pathogenic g.151230967C>T g.151851406C>T 1192G>A - GLRA1_000010 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/+ 7 c.896G>A r.(?) p.(Arg299Gln) Unknown - pathogenic g.151230967C>T g.151851406C>T 1192G>A - GLRA1_000010 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/+ 7 c.896G>A r.(?) p.(Arg299Gln) Unknown - pathogenic g.151230967C>T g.151851406C>T 1192G>A - GLRA1_000010 - Elmslie [1996] - - Germline - - - 0 - DNA SEQ - - HKPX - Elmslie [1996] - - - - - - 0 - - 1 Johan den Dunnen
+/+ 7 c.896G>A r.(?) p.(Arg299Gln) Unknown - pathogenic g.151230967C>T g.151851406C>T 1192G>A - GLRA1_000010 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/. 7 c.896G>A r.(?) p.(Arg299Gln) Unknown 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 ? - - - - DNA SEQ-NG-I - - HKPX 171467 - - M ? Finland - - 0 - - 1 Andreas Laner
+/+ 7 c.910A>C r.(?) p.(Lys304Gln) Unknown - pathogenic g.151230953T>G g.151851392T>G 1206A>C - GLRA1_000015 - Kang [2008] - - Germline - - - 0 - DNA SEQ - - HKPX - Kang [2008] - - - Korea - - 0 - - 1 Johan den Dunnen
+/+ 7 c.910A>G r.(?) p.(Lys304Glu) Unknown - pathogenic g.151230953T>C g.151851392T>C 1206A>G - GLRA1_000011 - Elmslie [1996] - - Germline - - - 0 - DNA SEQ - - HKPX - Elmslie [1996] - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.915G>A r.(?) p.(Val305=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/? 8 c.917C>A r.(?) p.(Ser306Tyr) Unknown - VUS g.151208624G>T g.151829063G>T 1213C>A - GLRA1_000012 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/. - c.942G>A r.(?) p.(Trp314*) Maternal (confirmed) - pathogenic g.151208599C>T g.151829038C>T - - GLRA1_000029 - - - - Germline - - - 0 - DNA ? - - HKPX - - - - - - - - 0 - - 1 Ivan Milenkovic
-?/. - c.993C>T r.(?) p.(Ala331=) Unknown - likely benign g.151208548G>A - GLRA1(NM_000171.4):c.993C>T (p.A331=) - GLRA1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.995T>A r.(?) p.(Val332Asp) Unknown - VUS g.151208546A>T g.151828985A>T - - GLRA1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 8 c.1041G>A r.(?) p.(Arg347Arg) Unknown - VUS g.151208500C>T g.151828939C>T 1337G>A - GLRA1_000014 - Leiden, unpublished - - Germline - - - 0 - DNA SEQ - - HKPX - Leiden, unpublished - - - Netherlands - - 0 - - 1 Johan den Dunnen
-?/. - c.1041G>A r.(=) p.(=) Parent #1 - 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 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 21 Mohammed Faruq
-/. - c.1060-149A>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.1132G>A r.(?) p.(Gly378Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - -
-/. - c.1132G>A r.(?) p.(Gly378Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.1141T>C r.(?) p.(Cys381Arg) Unknown - VUS g.151202467A>G g.151822906A>G - - GLRA1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1190A>C r.(?) p.(Asn397Thr) Unknown - likely benign g.151202418T>G - GLRA1(NM_001146040.1):c.1190A>C (p.N397T) - GLRA1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1198A>G r.(?) p.(Asn400Asp) Unknown - VUS g.151202410T>C g.151822849T>C - - GLRA1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1205C>T r.(?) p.(Pro402Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - -
?/. - c.1264A>C r.(?) p.(Lys422Gln) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
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