Variant #0000270151 (NC_000022.10:g.51018204T>C, NM_005198.4:c.983A>G (CHKB))

Chromosome 22
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.51018204T>C
DNA change (hg38) g.50579775T>C
Published as CHKB(NM_005198.4):c.983A>G (p.Q328R)
ISCN -
DB-ID CHKB_000015 See all 2 reported entries
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) 0.00412 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2018-01-15 20:58:59 +01:00 (CET)
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     
CPT1B NM_001145134.1 -?/. - c.-1246A>G r.(?) p.(=)
CHKB NM_005198.4 -?/. - c.983A>G r.(?) p.(Gln328Arg)
CHKB-CPT1B NR_027928.2 -?/. - n.1201A>G r.(?) -


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