Variant #0000520247 (NC_000003.11:g.49759919C>G, GMPPB(NM_021971.2):c.586G>C)

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.49759919C>G
DNA change (hg38) g.49722486C>G
Published as GMPPB(NM_013334.3):c.586G>C (p.(Glu196Gln))
ISCN -
DB-ID AMIGO3_000027
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GMPPB NM_021971.2 ?/. - c.586G>C r.(?) p.(Glu196Gln)
RNF123 NM_022064.3 ?/. - c.*1181C>G r.(=) p.(=)
IP6K1 NM_153273.3 ?/. - c.*4636G>C r.(=) p.(=)
AMIGO3 NM_198722.2 ?/. - c.-3021G>C r.(?) p.(=)