Variant #0000520246 (NC_000003.11:g.49759468T>C, GMPPB(NM_021971.2):c.881A>G)

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.49759468T>C
DNA change (hg38) g.49722035T>C
Published as GMPPB(NM_013334.3):c.881A>G (p.D294G)
ISCN -
DB-ID AMIGO3_000026
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) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GMPPB NM_021971.2 -?/. - c.881A>G r.(?) p.(Asp294Gly)
RNF123 NM_022064.3 -?/. - c.*730T>C r.(=) p.(=)
IP6K1 NM_153273.3 -?/. - c.*5087A>G r.(=) p.(=)
AMIGO3 NM_198722.2 -?/. - c.-2570A>G r.(?) p.(=)