Variant #0001047472 (NC_000004.11:g.90962924_90962926del)
Individual ID |
00466039 |
Chromosome |
4 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.90962924_90962926del |
DNA change (hg38) |
g.90041773_90041775del |
Published as |
g.90962921CAGG>C |
ISCN |
- |
DB-ID |
chr4_005004 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
- |
Frequency |
1/12 trios |
Re-site |
lwbaum |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Larry Baum |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Larry Baum |
Date created |
2025-08-22 10:16:10 +02:00 (CEST) |
Date last edited |
2025-09-22 14:59:28 +02:00 (CEST) |

Variant on transcripts
Screenings
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