Unique variants in the GRIN2C gene

Information The variants shown are described using the NM_000835.4 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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.-28457_*23819del r.0 p.0 - likely pathogenic (recessive) g.72814755_72884308del g.74818633_74888183del chr17 74818633-74888183del - FDXR_000037 - PubMed: Jurkute 2021 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.-4549C>T r.(?) p.(=) - likely benign g.72860400G>A - FDXR(NM_001258012.3):c.1001C>T (p.A334V) - FDXR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-4307C>T r.(?) p.(=) - VUS g.72860158G>A g.74864036G>A FDXR(NM_001258012.2):c.1163C>T (p.(Thr388Met)) - FDXR_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-3493del r.(?) p.(=) - VUS g.72859345del - FDXR(NM_001258012.1):c.1328delA (p.(Lys443fs)) - FDXR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2731A>C r.(?) p.(Ser911Arg) - VUS g.72839545T>G g.74843406T>G GRIN2C(NM_000835.3):c.2731A>C (p.(Ser911Arg)) - GRIN2C_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3169C>G r.(?) p.(Pro1057Ala) - VUS g.72839107G>C g.74842968G>C GRIN2C(NM_000835.3):c.3169C>G (p.(Pro1057Ala)) - GRIN2C_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3418G>C r.(?) p.(Ala1140Pro) - likely benign g.72838858C>G g.74842719C>G GRIN2C(NM_000835.5):c.3418G>C (p.A1140P) - TMEM104_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3463_3468del r.(?) p.(Ala1155_His1156del) - VUS g.72838817_72838822del g.74842678_74842683del GRIN2C(NM_000835.5):c.3463_3468delGCCCAC (p.A1155_H1156del) - TMEM104_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3623G>A r.(?) p.(Ser1208Asn) - likely benign g.72838653C>T g.74842514C>T GRIN2C(NM_000835.5):c.3623G>A (p.S1208N) - TMEM104_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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