Gene Symbol GRN
Gene ID 2896
Chromosomal Location 17q21.32
Genomic RefSeqGene NG_007886.1 14980 bp
Transcript RefSeq NM_002087.2 2323 bp
Protein RefSeq NP_002078.1 593 aa
No. of mutations 2
No. of sequence variations 0
 No. of changes 2
Additional Notes
Identifier Mutation Location Nucleotide Change Amino Acid Change Type of Mutation Predicted Functional Effect Phenotype Histology No. of families  Country of origin PMID References Patients Notes
grn.001 ? c.813_816del p.Thr272Serfs∗10 Frameshift Probably damaging Adult NCL if homozygous; Dementia if heterozygous FPP 1 Italy 22608501 Smith et al, 2012 Pa-grn.001, Pa-grn.002
grn.002 L: Exon 11 c.1477C>T p.Arg493* Nonsense Diagnosed Adult NCL in one family, more likely FTLD-TDP 1 22608501 Smith et al, 2012 PA-grn.003
Notes
Recommended Mutation nomenclature followed (http://www.hgvs.org/rec.html)
Polyphen and/or SIFT used to predict functional effects
C around birth,  infantile (6-18 mo)I, LI late infantile (2-4 yr), vLI (variant late infantile), J Juvenile (5-10 yr), A Adult 
GROD, CL, RL, FP, condensed
See dbSNP for more short genetic variations