Variant #0000719521 (NC_000003.11:g.49761081C>G, GMPPB(NM_021971.2):c.79G>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.49761081C>G
DNA change (hg38) -
Published as GMPPB(NM_013334.3):c.79G>C (p.D27H)
ISCN -
DB-ID GMPPB_000004 See all 18 reported entries
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) 0.0007 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.79G>C r.(?) p.(Asp27His)
RNF123 NM_022064.3 ?/. - c.*2343C>G r.(=) p.(=)
IP6K1 NM_153273.3 ?/. - c.*3474G>C r.(=) p.(=)
AMIGO3 NM_198722.2 ?/. - c.-4183G>C r.(?) p.(=)