Variant #0000248876 (NC_000014.8:g.24567498A>C, NRL(NM_006177.3):c.-13797T>G)

Chromosome 14
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.24567498A>C
DNA change (hg38) g.24098289A>C
Published as PCK2(NM_004563.4):c.362A>C (p.Q121P)
ISCN -
DB-ID PCK2_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCK2 NM_001018073.1 -/. - c.362A>C r.(?) p.(Gln121Pro)
DCAF11 NM_001163484.1 -/. - c.-16688A>C r.(?) p.(=)
NRL NM_006177.3 -/. - c.-13797T>G r.(?) p.(=)