Variant #0000817705 (NC_000005.9:g.?, NSD1(NM_022455.4):c.(?_-579)_(*1023_?))

Individual ID 00387681
Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.?
DNA change (hg38) g.?
Published as NSD1 Deletion of entire sequencing region
ISCN -
DB-ID RAD50_000000 See all 30 reported entries
Variant remarks no protein change given, heterozygous
Reference PubMed: Zanolli 2020
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NSD1 NM_022455.4 +?/. - c.(?_-579)_(*1023_?) r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000388907 DNA SEQ-NG blood targeted sequencing NSD1 1 LOVD