Genomic variant #0000531298

Chromosome 7
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.150707755C>G
DNA change (hg38) -
Published as NOS3(NM_000603.4):c.2756C>G (p.P919R)
ISCN -
DB-ID ATG9B_000006
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
NOS3 NM_000603.4 ?/. - c.2756C>G VUS r.(?) p.(Pro919Arg)
ATG9B NM_173681.5 ?/. - c.*3268G>C VUS r.(=) p.(=)