Variant #0000719520 (NC_000003.11:g.49760475A>G, GMPPB(NM_021971.2):c.332T>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.49760475A>G
DNA change (hg38) -
Published as GMPPB(NM_013334.3):c.332T>C (p.V111A)
ISCN -
DB-ID AMIGO3_000030
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_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GMPPB NM_021971.2 ?/. - c.332T>C r.(?) p.(Val111Ala)
RNF123 NM_022064.3 ?/. - c.*1737A>G r.(=) p.(=)
IP6K1 NM_153273.3 ?/. - c.*4080T>C r.(=) p.(=)
AMIGO3 NM_198722.2 ?/. - c.-3577T>C r.(?) p.(=)