Genomic variant #0000405070

Individual ID 00180437
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.150696111T>A
DNA change (hg38) g.150999023T>A
Published as -
ISCN -
DB-ID NOS3_000006 See all 5 reported entries
Variant remarks for details see the Uveogene database
Reference PubMed: Chung 2003
ClinVar ID -
dbSNP ID rs1799983
Origin Germline
Segregation -
Frequency 21/130 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Peizeng Yang
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NOS3 NM_000603.4 ./. - c.894T>A - r.(?) p.(Asp298Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181374 DNA arraySNP Blood - NOS3 1 Peizeng Yang