Variant #0000436570 (NC_000015.9:g.?, SPRED1(NM_152594.2):c.(?_33-17014)_(423+568)delins5)
Individual ID |
00205892 |
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.? |
DNA change (hg38) |
- |
Published as |
c.33-17014_423+568delins5 |
ISCN |
- |
DB-ID |
SPRED1_000103 |
Variant remarks |
43 kb deletion / Domain: EVH-1 |
Reference |
Messiaen UAB, unpublished novel mutation |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Genomic location of variant could not be determined |
Owner |
Ludwine Messiaen |
Database submission license |
No license selected |
Created by |
Ludwine Messiaen |
Variant on transcripts
Screenings
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