Variant #0000244024 (NC_000017.10:g.39782339T>C, NM_002087.2:c.(158T>C) (GRN))
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.39782339T>C |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
GRN_000008 |
Variant remarks |
Observed in 1 non-familial FTD patient, absent in 160 control individuals. /r/Point mutation in coding region predicting an amino acid substitution Variant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs63750481 |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Marc Cruts |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |
Date created |
2013-05-01 13:44:57 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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