Variant #0000436598 (NC_000015.9:g.38591611C>T, SPRED1(NM_152594.2):c.70C>T)
Individual ID |
00205920 |
Chromosome |
15 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.38591611C>T |
DNA change (hg38) |
g.38299410C>T |
Published as |
- |
ISCN |
- |
DB-ID |
SPRED1_000014 See all 13 reported entries |
Variant remarks |
Domain: EVH-1 |
Reference |
PubMed: Brems 2007 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Ludwine Messiaen |
Database submission license |
No license selected |
Created by |
Ludwine Messiaen |

Variant on transcripts
Screenings
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