Variant #0000893585 (NC_000017.10:g.41063349_41063351del, NM_000151.3:c.980_982del (G6PC))

Chromosome 17
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.41063349_41063351del
DNA change (hg38) -
Published as G6PC(NM_000151.2):c.980_982delTCT (p.F327del), G6PC1(NM_000151.4):c.980_982delTCT (p.F327del)
ISCN -
DB-ID G6PC_000044 See all 4 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) Retrieve
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2022-11-01 13:41:49 +01:00 (CET)
Date last edited 2023-01-11 15:44:22 +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.980_982del r.(?) p.(Phe327del)


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