Variant #0000293255 (NC_000014.8:g.24551859G>A, NRL(NM_006177.3):c.199C>T)

Chromosome 14
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.24551859G>A
DNA change (hg38) g.24082650G>A
Published as NRL(NM_006177.4):c.199C>T (p.P67S)
ISCN -
DB-ID NRL_000007 See all 3 reported entries
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) 0.0001 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCK2 NM_001018073.1 -?/. - c.-11756G>A r.(?) p.(=)
DCAF11 NM_001163484.1 -?/. - c.-32327G>A r.(?) p.(=)
CPNE6 NM_006032.2 -?/. - c.*4800G>A r.(=) p.(=)
NRL NM_006177.3 -?/. - c.199C>T r.(?) p.(Pro67Ser)