Variant #0000859088 (NC_000003.11:g.49760158G>T, GMPPB(NM_021971.2):c.432C>A)

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.49760158G>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID AMIGO3_000048
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_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GMPPB NM_021971.2 +/. - c.432C>A r.(?) p.(Tyr144*)
RNF123 NM_022064.3 +/. - c.*1420G>T r.(=) p.(=)
IP6K1 NM_153273.3 +/. - c.*4397C>A r.(=) p.(=)
AMIGO3 NM_198722.2 +/. - c.-3260C>A r.(?) p.(=)