Variant #0000436615 (NC_000015.9:g.38591665G>A, SPRED1(NM_152594.2):c.124G>A)
Individual ID |
00205937 |
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Effect unknown |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.38591665G>A |
DNA change (hg38) |
g.38299464G>A |
Published as |
- |
ISCN |
- |
DB-ID |
SPRED1_000006 See all 4 reported entries |
Variant remarks |
Domain: EVH-1 |
Reference |
PubMed: Spencer 2011 |
ClinVar ID |
- |
dbSNP ID |
rs147204964 |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00063 View details |
Owner |
Ludwine Messiaen |
Database submission license |
No license selected |
Created by |
Ludwine Messiaen |

Variant on transcripts
Screenings
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