Variant #0000724741 (NC_000014.8:g.24567596_24567597insCTGTGGATGAGAG, NRL(NM_006177.3):c.-13895_-13894insTCTCATCCACAGC)

Chromosome 14
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.24567596_24567597insCTGTGGATGAGAG
DNA change (hg38) -
Published as PCK2(NM_001308054.1):c.58_59insCTGTGGATGAGAG (p.G20Afs*31)
ISCN -
DB-ID DCAF11_000017
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_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     
PCK2 NM_001018073.1 +/. - c.460_460+1insCTGTGGATGAGAG r.spl? p.?
DCAF11 NM_001163484.1 +/. - c.-16590_-16589insCTGTGGATGAGAG r.(?) p.(=)
NRL NM_006177.3 +/. - c.-13895_-13894insTCTCATCCACAGC r.(?) p.(=)