Full data view for gene GRIA4

Information The variants shown are described using the NM_000829.3 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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.17G>C r.(?) p.(Arg6Thr) Unknown - likely benign g.105481741G>C - GRIA4(NM_000829.4):c.17G>C (p.(Arg6Thr)) - GRIA4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.410C>T r.(?) p.(Ser137Leu) Unknown - VUS g.105623869C>T - GRIA4(NM_000829.3):c.410C>T (p.(Ser137Leu)) - GRIA4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.448G>A r.(?) p.(Glu150Lys) Unknown - likely benign g.105623907G>A - GRIA4(NM_000829.3):c.448G>A (p.(Glu150Lys)) - GRIA4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.479C>T r.(?) p.(Thr160Ile) Unknown - VUS g.105623938C>T - GRIA4(NM_000829.3):c.479C>T (p.(Thr160Ile)) - GRIA4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.512T>C r.(?) p.(Met171Thr) Unknown - likely benign g.105732774T>C - GRIA4(NM_000829.4):c.512T>C (p.(Met171Thr)) - GRIA4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.627T>G r.(?) p.(Phe209Leu) Unknown - likely benign g.105732889T>G - GRIA4(NM_000829.4):c.627T>G (p.(Phe209Leu)) - GRIA4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.794T>G r.(?) p.(Val265Gly) Unknown - VUS g.105769062T>G - - - GRIA4_000015 - - - rs759332963 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.932C>G r.(?) p.(Thr311Ser) Unknown - likely benign g.105774586C>G - GRIA4(NM_000829.4):c.932C>G (p.(Thr311Ser)) - GRIA4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.937C>T r.(?) p.(Arg313*) Unknown - VUS g.105774591C>T - GRIA4(NM_001077243.2):c.937C>T (p.R313*) - GRIA4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1025G>C r.(?) p.(Gly342Ala) Unknown - VUS g.105774679G>C - GRIA4(NM_000829.3):c.1025G>C (p.(Gly342Ala)) - GRIA4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1031A>T r.(?) p.(Asp344Val) Unknown - VUS g.105774685A>T - GRIA4(NM_001077243.3):c.1031A>T (p.D344V) - GRIA4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1058G>A r.(?) p.(Arg353Gln) Unknown - likely benign g.105775927G>A - GRIA4(NM_000829.4):c.1058G>A (p.(Arg353Gln)) - GRIA4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1064A>C r.(?) p.(Gln355Pro) Unknown - VUS g.105775933A>C g.105905207A>C GRIA4(NM_001077243.2):c.1064A>C (p.Q355P) - GRIA4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1158+9C>T r.(=) p.(=) Unknown - likely benign g.105776036C>T - GRIA4(NM_000829.4):c.1158+9C>T - GRIA4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1915A>T r.(?) p.(Thr639Ser) Unknown - pathogenic (dominant) g.105797534A>T g.105926808A>T - - GRIA4_000016 - PubMed: Martin 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat1 PubMed: Martin 2017 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - 1 Johan den Dunnen
+?/. - c.1918G>T r.(?) p.(Ala640Ser) Unknown ACMG likely pathogenic (dominant) g.105797537G>T - - - GRIA4_000021 ACMG: PS2_MOD, PM1, PM5, PM2_SUP, PP2, PP3; confirmed de novo in trio-exom, de novo in ClinVar - VCV001332998.1 - De novo - - - - - DNA SEQ-NG-I - - NEDSGA 251198 - - F ? Pakistan - - - - - 1 Andreas Laner
+/. - c.1921A>G r.(?) p.(Asn641Asp) Unknown - pathogenic (dominant) g.105797540A>G g.105926814A>G - - GRIA4_000017 - PubMed: Martin 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat2 PubMed: Martin 2017 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - 1 Johan den Dunnen
+?/. - c.1928C>A r.(?) p.(Ala643Asp) Unknown - likely pathogenic g.105797547C>A g.105926821C>A - - GRIA4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1928C>G r.(?) p.(Ala643Gly) Unknown - pathogenic (dominant) g.105797547C>G g.105926821C>G - - GRIA4_000018 - PubMed: Martin 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat3 PubMed: Martin 2017 2-generation family, 1 affected, unaffected non-carrier parents M no - - - - - - 1 Johan den Dunnen
+/. - c.1931C>T r.(?) p.(Ala644Val) Unknown - pathogenic (dominant) g.105797550C>T g.105926824C>T - - GRIA4_000019 - PubMed: Martin 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat4 PubMed: Martin 2017 2-generation family, 1 affected, unaffected non-carrier parents M no - white - - - - 1 Johan den Dunnen
+/. - c.2090G>C r.(?) p.(Arg697Pro) Unknown - pathogenic (dominant) g.105804491G>C g.105933765G>C - - GRIA4_000020 - PubMed: Martin 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ID Pat5 PubMed: Martin 2017 2-generation family, 1 affected, unaffected non-carrier parents F no - - - - - - 1 Johan den Dunnen
-?/. - c.2225C>A r.(?) p.(Thr742Lys) Unknown - likely benign g.105804626C>A - - - GRIA4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2295-5920T>C r.(=) p.(=) Unknown - likely benign g.105836721T>C - GRIA4(NM_001077243.3):c.2342T>C (p.(Leu781Ser)) - GRIA4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2295-5718G>A r.(=) p.(=) Both (homozygous) - VUS g.105836923G>A g.105966196G>A - - GRIA4_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2295-5718G>A r.(=) p.(=) Both (homozygous) - VUS g.105836923G>A g.105966196G>A - - GRIA4_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2295-5681A>G r.(=) p.(=) Both (homozygous) - VUS g.105836960A>G g.105966233A>G - - GRIA4_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2295-5681A>G r.(=) p.(=) Both (homozygous) - VUS g.105836960A>G g.105966233A>G - - GRIA4_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2295-5597T>C r.(=) p.(=) Both (homozygous) - VUS g.105837044T>C g.105966317T>C - - GRIA4_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2295-5597T>C r.(=) p.(=) Both (homozygous) - VUS g.105837044T>C g.105966317T>C - - GRIA4_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2295-5522G>A r.(=) p.(=) Both (homozygous) - VUS g.105837119G>A g.105966392G>A - - GRIA4_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2295-5522G>A r.(=) p.(=) Both (homozygous) - VUS g.105837119G>A g.105966392G>A - - GRIA4_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2371G>A r.(?) p.(Asp791Asn) Unknown - VUS g.105842717G>A - GRIA4(NM_000829.4):c.2371G>A (p.(Asp791Asn)) - GRIA4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2409+161C>T r.(=) p.(=) Both (homozygous) - VUS g.105842916C>T g.105972189C>T - - GRIA4_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2409+161C>T r.(=) p.(=) Both (homozygous) - VUS g.105842916C>T g.105972189C>T - - GRIA4_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.2410-9C>A r.(=) p.(=) Unknown - VUS g.105845028C>A - GRIA4(NM_000829.4):c.2410-9C>A - GRIA4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2448C>T r.(?) p.(Gly816=) Unknown - likely benign g.105845075C>T - GRIA4(NM_000829.4):c.2448C>T (p.G816=) - GRIA4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2449G>A r.(?) p.(Val817Ile) Unknown - likely benign g.105845076G>A - GRIA4(NM_000829.4):c.2449G>A (p.(Val817Ile)) - GRIA4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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