Variant #0000520255 (NC_000003.11:g.49761107G>C, GMPPB(NM_021971.2):c.53C>G)

Chromosome 3
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.49761107G>C
DNA change (hg38) g.49723674G>C
Published as GMPPB(NM_013334.3):c.53C>G (p.T18R)
ISCN -
DB-ID AMIGO3_000033
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GMPPB NM_021971.2 ?/. - c.53C>G r.(?) p.(Thr18Arg)
RNF123 NM_022064.3 ?/. - c.*2369G>C r.(=) p.(=)
IP6K1 NM_153273.3 ?/. - c.*3448C>G r.(=) p.(=)
AMIGO3 NM_198722.2 ?/. - c.-4209C>G r.(?) p.(=)