Variant #0000920466 (NC_000017.10:g.41063033G>C, NM_000151.3:c.664G>C (G6PC))

Individual ID 00433167
Chromosome 17
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.41063033G>C
DNA change (hg38) g.42911016G>C
Published as G222R (G743C)
ISCN -
DB-ID G6PC_000061 See all 2 reported entries
Variant remarks -
Reference PubMed: Lei 1995
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/140 case chromosomes
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-02-27 15:17:50 +01:00 (CET)
Date last edited 2023-03-02 16:48:25 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
G6PC NM_000151.3 +/. - c.664G>C r.(?) p.(Gly222Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000434621 DNA SEQ;SSCA - - G6PC 1 Johan den Dunnen


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