Variant #0000520242 (NC_000003.11:g.49759384G>C, GMPPB(NM_021971.2):c.951+14C>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.49759384G>C
DNA change (hg38) g.49721951G>C
Published as GMPPB(NM_013334.3):c.965C>G (p.(Ala322Gly))
ISCN -
DB-ID AMIGO3_000022
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GMPPB NM_021971.2 -?/. - c.951+14C>G r.(=) p.(=)
RNF123 NM_022064.3 -?/. - c.*646G>C r.(=) p.(=)
IP6K1 NM_153273.3 -?/. - c.*5171C>G r.(=) p.(=)
AMIGO3 NM_198722.2 -?/. - c.-2486C>G r.(?) p.(=)