Variant #0000531301 (NC_000007.13:g.150713771C>G, NM_000603.4:c.*2514C>G (NOS3))

Chromosome 7
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.150713771C>G
DNA change (hg38) g.151016683C>G
Published as ATG9B(NM_173681.5):c.2422+5G>C (p.?)
ISCN -
DB-ID ATG9B_000009
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00081 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-08-06 14:59:34 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NOS3 NM_000603.4 -?/. - c.*2514C>G r.(=) p.(=)
ATG9B NM_173681.5 -?/. - c.2423+5G>C r.spl? p.?


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