Genomic variant #0000331961

Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.150700484G>A
DNA change (hg38) g.151003396G>A
Published as NOS3(NM_001160110.1):c.1838G>A (p.(Arg613Gln))
ISCN -
DB-ID NOS3_000004
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NOS3 NM_000603.4 ?/. - c.1752+1092G>A r.(=) p.(=)
ATG9B NM_173681.5 ?/. - c.*10539C>T r.(=) p.(=)