Variant #0000001538 (NC_000007.14:g.150999023T>G, NM_000603.4:c.894T>G (NOS3))

Individual ID 00000325
Chromosome 7
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.150999023T>G
Published as G894T
Reference Dzuzaini M Ghazali et al. (2008), dbSNP, (OMIM 0001), ClinVar
DB-ID NOS3_000001 See all 4 reported entries
dbSNP ID rs1799983
Frequency 54/200
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2021-01-06 11:47:40 +08:00 (CST)
Date last edited 2021-09-01 11:50:39 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
NOS3 NM_000603.4 -/. - c.894T>G - r.(?) p.(Asp298Glu) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000340 DNA PCR;SEQ NOS3 2 Nuur Athirah Binti Mohd Daud