Variant #0000623528 (NC_000016.9:g.732408G>A, NM_005861.2:c.831G>A (STUB1))

Chromosome 16
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.732408G>A
DNA change (hg38) g.682408G>A
Published as STUB1(NM_001293197.1):c.615G>A (p.Q205=)
ISCN -
DB-ID JMJD8_000014
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) 0.00015 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-12-06 12:43:26 +01:00 (CET)
Date last edited 2020-07-07 12:06:16 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
JMJD8 NM_001005920.2 -?/. - c.*386C>T r.(=) p.(=)
STUB1 NM_005861.2 -?/. - c.831G>A r.(?) p.(Gln277=)
WDR24 NM_032259.2 -?/. - c.*2326C>T r.(=) p.(=)


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