Variant #0000277333 (NC_000003.11:g.49760039T>C, GMPPB(NM_021971.2):c.551=)

Chromosome 3
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.49760039T>C
DNA change (hg38) g.49722606T>C
Published as GMPPB(NM_013334.3):c.551A>G (p.Q184R)
ISCN -
DB-ID GMPPB_000025
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.99724 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GMPPB NM_021971.2 -/. - c.551= r.(=) p.(Arg184=)
RNF123 NM_022064.3 -/. - c.*1301T>C r.(=) p.(=)
IP6K1 NM_153273.3 -/. - c.*4516A>G r.(=) p.(=)
AMIGO3 NM_198722.2 -/. - c.-3141A>G r.(?) p.(=)