Genomic variant #0000600916

Individual ID 00267110
Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.150707488C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID NOS3_000002
Variant remarks -
Reference PubMed: Sebastiani 2008
ClinVar ID -
dbSNP ID rs743507
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner HbVar - Belinda Giardine and Ross Hardison
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NOS3 NM_000603.4 ?/. - c.2685+113C>T VUS r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000268239 DNA ? - - NOS3 1 HbVar - Belinda Giardine and Ross Hardison