Variant #0000724742 (NC_000014.8:g.24567800C>T, NRL(NM_006177.3):c.-14099G>A)

Chromosome 14
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.24567800C>T
DNA change (hg38) -
Published as PCK2(NM_004563.4):c.577C>T (p.R193*)
ISCN -
DB-ID DCAF11_000018
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) 9.0E-5 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.577C>T r.(?) p.(Arg193*)
DCAF11 NM_001163484.1 ?/. - c.-16386C>T r.(?) p.(=)
NRL NM_006177.3 ?/. - c.-14099G>A r.(?) p.(=)