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 InternationalCreative Commons License
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)
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Variant on transcripts

Stop! No variants on transcripts found!



Screenings


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Owner     
0000468017 DNA MS blood WGS - 1 Larry Baum


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