Variant #0000243554 (NC_000017.10:g.42427049G>A, NM_002087.2:c.(279G>A) (GRN))
Individual ID |
00149211 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Does not affect function |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.42427049G>A |
DNA change (hg38) |
g.44349681G>A |
Published as |
- |
ISCN |
- |
DB-ID |
GRN_000080 See all 3 reported entries |
Variant remarks |
Observed in 2 FTD patients and 1 unaffected individual. /r/Silent point mutation in coding region |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
rs63751088 |
Origin |
Unknown |
Segregation |
no |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
8.0E-5 View details |
Owner |
Marc Cruts |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |
Date created |
2013-03-04 17:13:03 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
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