Unique variants in the GRIA2 gene

Information The variants shown are described using the NM_000826.3 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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Effect     

Reported     

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.88+2T>C r.spl p.? - pathogenic g.158142284T>C g.157221132T>C - - GRIA2_000021 - - - - De novo - - - - - Stephanie Efthymiou
+/. 1 - c.140G>A r.(?) p.(Gly47Glu) - pathogenic g.158142870G>A g.157221718G>A - - GRIA2_000015 - - - - De novo - - - - - Stephanie Efthymiou
+/. 1 - c.857del r.(?) p.(Pro286Leufs*14) - pathogenic g.158242726del g.157321574del - - GRIA2_000012 - - - - De novo - - - - - Stephanie Efthymiou
?/., +/. 2 - c.905A>G r.(?) p.(Asp302Gly) - VUS, pathogenic g.158253993A>G g.157332841A>G GRIA2(NM_000826.3):c.905A>G (p.(Asp302Gly)) - GRIA2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, De novo - - - - - VKGL-NL_Leiden, Stephanie Efthymiou
+/. 1 - c.967C>T r.(?) p.(Arg323*) - pathogenic g.158254055C>T g.157332903C>T - - GRIA2_000020 - - - - De novo - - - - - Stephanie Efthymiou
+/. 1 - c.1582C>A r.(?) p.(Pro528Thr) - pathogenic g.158257637C>A g.157336485C>A - - GRIA2_000009 - - - - De novo - - - - - Stephanie Efthymiou
+/. 1 - c.1582_1590del r.(?) p.(Pro528_Lys530del) - pathogenic g.158257637_158257645del g.157336485_157336493del g.158257636del - GRIA2_000004 - - - - De novo - - - - - Stephanie Efthymiou
+/. 1 - c.1785del r.(?) p.(Phe595Leufs*37) - pathogenic g.158257840del g.157336688del - - GRIA2_000010 - - - - De novo - - - - - Stephanie Efthymiou
+/. 1 - c.1819C>G r.(?) p.(Gln607Glu) - pathogenic g.158257874C>G g.157336722C>G Arg607Gly - GRIA2_000022 - - - - De novo - - - - - Stephanie Efthymiou
+/. 1 - c.1825G>A r.(?) p.(Gly609Arg) - pathogenic g.158257880G>A g.157336728G>A - - GRIA2_000006 - - - - De novo - - - - - Stephanie Efthymiou
+/. 1 - c.1831G>A r.(?) p.(Asp611Asn) - pathogenic g.158257886G>A g.157336734G>A g.158257885G>A - GRIA2_000005 - - - - De novo - - - - - Stephanie Efthymiou
+/. 1 - c.1844+1G>A r.spl p.? - pathogenic g.158257900G>A g.157336748G>A - - GRIA2_000011 - - - - De novo - - - - - Stephanie Efthymiou
+?/. 1 - c.1906T>G r.(?) p.(Ser636Ala) - likely pathogenic g.158262477T>G g.157341325T>G GRIA2(NM_000826.3):c.1906T>G (p.S636A) - GRIA2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 2 - c.1915G>T r.(?) p.(Ala639Ser) - pathogenic g.158262486G>T g.157341334G>T - - GRIA2_000017 - - - - De novo - - - - - Stephanie Efthymiou
+/. 1 - c.1932C>A r.(?) p.(Phe644Leu) - pathogenic g.158262503C>A g.157341351C>A - - GRIA2_000014 - - - - De novo - - - - - Stephanie Efthymiou
+/. 1 - c.1937C>A r.(?) p.(Thr646Asn) - pathogenic g.158262508C>A g.157341356C>A - - GRIA2_000013 - - - - De novo - - - - - Stephanie Efthymiou
+/. 4 - c.1939G>C r.(?) p.(Val647Leu) - pathogenic g.158262510G>C g.157341358G>C - - GRIA2_000016 - - - - De novo - - - - - Stephanie Efthymiou
+/. 1 - c.2328G>T r.(?) p.(Glu776Asp) - pathogenic g.158282726G>T g.157361574G>T - - GRIA2_000018 - - - - De novo - - - - - Stephanie Efthymiou
?/. 1 - c.2335G>A r.(?) p.(Val779Ile) - VUS g.158282733G>A g.157361581G>A GRIA2(NM_000826.3):c.2335G>A (p.V779I) - GRIA2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2363G>T r.(?) p.(Trp788Leu) - pathogenic g.158282761G>T g.157361609G>T g.158282233G>T - GRIA2_000003 - - - - De novo - - - - - Stephanie Efthymiou
-?/. 1 - c.2407-9A>G r.(=) p.(=) - likely benign g.158283942A>G g.157362790A>G GRIA2(NM_000826.3):c.2407-9A>G - GRIA2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2435A>G r.(?) p.(Asn812Ser) - pathogenic g.158283979A>G g.157362827A>G - - GRIA2_000019 - - - - De novo - - - - - Stephanie Efthymiou
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