Variant #0000561904 (NC_000017.10:g.42426791T>C, NC_000017.10(NM_002087.2):c.139-3T>C (GRN))
| Chromosome |
17 |
| Allele |
Unknown |
| Affects function (as reported) |
Probably does not affect function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
likely benign |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.42426791T>C |
| DNA change (hg38) |
g.44349423T>C |
| Published as |
GRN(NM_002087.2):c.139-3T>C |
| ISCN |
- |
| DB-ID |
FAM171A2_000002 See all 2 reported entries |
| Variant remarks |
VKGL data sharing initiative Nederland |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
CLASSIFICATION record |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
| Owner |
VKGL-NL_Rotterdam |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
VKGL-NL_Rotterdam |
| Date created |
2019-07-18 18:22:55 +02:00 (CEST) |
| Date last edited |
2020-07-13 16:39:57 +02:00 (CEST) |

Variant on transcripts
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