Variant #0000724744 (NC_000014.8:g.24572811C>T, NRL(NM_006177.3):c.-19110G>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.24572811C>T
DNA change (hg38) -
Published as PCK2(NM_001308054.1):c.1159C>T (p.R387C)
ISCN -
DB-ID DCAF11_000020
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) 2.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCK2 NM_001018073.1 ?/. - c.*3297C>T r.(=) p.(=)
DCAF11 NM_001163484.1 ?/. - c.-11375C>T r.(?) p.(=)
NRL NM_006177.3 ?/. - c.-19110G>A r.(?) p.(=)