Variant #0000436564 (NC_000015.9:g.38545413C>A, SPRED1(NM_152594.2):c.27C>A)
Individual ID |
00205886 |
Chromosome |
15 |
Allele |
Paternal (confirmed) |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.38545413C>A |
DNA change (hg38) |
g.38253212C>A |
Published as |
- |
ISCN |
- |
DB-ID |
SPRED1_000134 |
Variant remarks |
Domain: EVH-1 |
Reference |
Trevisson, University of Padova, unpublished novel mutation |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Eva Trevisson |
Database submission license |
No license selected |
Created by |
Eva Trevisson |

Variant on transcripts
Screenings
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