Unique variants in the NGRN gene

Information The variants shown are described using the 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.-40027C>T r.(?) p.(=) - VUS g.90768918C>T g.90225686C>T - - SEMA4B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-34552G>C r.(?) p.(=) - VUS g.90774393G>C - CIB1(NM_001277764.1):c.519C>G (p.N173K) - CIB1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-34294A>G r.(?) p.(=) - VUS g.90774651A>G - CIB1(NM_001277764.1):c.404T>C (p.L135P) - CIB1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-34201_-34199del r.(?) p.(=) - likely benign g.90774744_90774746del - CIB1(NM_006384.4):c.196-5_196-3delCCT - CIB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - c.-33502G>A r.(?) p.(=) - likely benign g.90775443G>A - CIB1(NM_001277764.1):c.315+8C>T, CIB1(NM_006384.4):c.195+8C>T - CIB1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.-32045C>T r.(?) p.(=) - VUS g.90776900C>T - CIB1(NM_006384.4):c.86+1G>A - CIB1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.434G>A r.(?) p.(Gly145Glu) - VUS g.90814578G>A g.90271346G>A - - NGRN_000001 - PubMed: Beck 2014 - rs116320466 Germline - - - - - LOVD
?/. 1 - c.800A>G r.(?) p.(Asp267Gly) - VUS g.90814944A>G g.90271712A>G - - NGRN_000002 - PubMed: Beck 2014 - rs16944113 Germline - - - - - LOVD
?/. 1 - c.832C>T r.(?) p.(Arg278*) - VUS g.90814976C>T - NGRN(NM_001033088.1):c.832C>T (p.R278*) - NGRN_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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