Genomic variant #0000531300

Chromosome 7
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.150711113C>T
DNA change (hg38) -
Published as NOS3(NM_000603.4):c.3468C>T (p.H1156=)
ISCN -
DB-ID ATG9B_000008
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) 0.00108 View details
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.3468C>T likely benign r.(?) p.(=)
ATG9B NM_173681.5 -?/. - c.*343+57G>A likely benign r.(=) p.(=)