Variant #0000703990 (NC_000017.10:g.42426921T>C, NC_000017.10(NM_002087.2):c.264+2T>C (GRN))
Individual ID |
00320003 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
likely pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.42426921T>C |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
GRN_000171 |
Variant remarks |
ACMG: PVS1, PM2 (predicted in-frame exon 3 skipping, exon 3 contains functional "granulin" domain) |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Andreas Laner |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Andreas Laner |
Date created |
2020-11-17 15:52:33 +01:00 (CET) |
Date last edited |
2020-11-17 17:21:00 +01:00 (CET) |

Variant on transcripts
Screenings
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