Full data view for gene GRN

An NCL gene variant database
Information The variants shown are described using the NM_002087.2 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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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     
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown yes - - - - DNA ? - - FTD - - - - - Italy white 66y06m - - - 6 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown yes - - - - DNA ? - - ?, MPD - - - - - Italy white 73y04m - - - 5 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTD - - - - - France white - - - - 2 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTD - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTD - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - ? - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - ? - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTD - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTD - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown yes - - - - DNA ? - - ? - - - - - Italy white 80y - - - 2 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTDALS - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTD - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown yes - - - - DNA ? - - AD, CIAT, FTD - - - - - Italy white 69y - - - 3 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTD - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTD - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - ? - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTD - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown yes - - - - DNA ? - - FTD - - - - - Italy white - - - - 3 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - DLB - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTD - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - ? - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTD - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTDALS - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTD - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTD - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - ? - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTD - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTD - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - ? - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTD - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - ? - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTD - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTD - - - - - - - - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTD - - - - - Italy white - - - - 1 Marc Cruts
+/+ 8 c.(813_816del) r.(?) p.(Thr272Serfs*10) Unknown - pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 Tetranucleotide deletion in coding region causing frameshift and premature translation termination, predicted to result in nonsense-mediated mRNA decay - - rs63749877 Unknown no - - - - DNA ? - - FTD - - - - - Italy white 66y - - - 1 Marc Cruts
+?/. 8 c.813_816del r.(?) p.(Thr272Serfs*10) Both (homozygous) - likely pathogenic g.42428509_42428512del g.44351141_44351144del - - GRN_000003 - PubMed: Smith 2012, Journal: Smith 2012 - rs63749877 Germline yes - - - - DNA SEQ, SEQ-NG - - CLN 22608501-Fam PubMed: Smith 2012, Journal: Smith 2012 3-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M - Australia Italy (Lombardy) - - - - 2 Johan den Dunnen
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