Variant #0000187946 (NC_000005.9:g.70220917C>T, SMN1(NM_000344.3):c.-14C>T)
Individual ID |
00116708 |
Chromosome |
5 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.70220917C>T |
DNA change (hg38) |
g.70925090C>T |
Published as |
- |
ISCN |
- |
DB-ID |
SMN1_000038 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Parsons 1998, OMIM:var0006 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.15086 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2006-03-05 16:35:01 +01:00 (CET) |
Date last edited |
2012-11-02 20:43:05 +01:00 (CET) |

Variant on transcripts
Screenings
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