Variant #0000552426 (NC_000014.8:g.24551765A>G, NRL(NM_006177.3):c.293T>C)

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.24551765A>G
DNA change (hg38) g.24082556A>G
Published as NRL(NM_006177.4):c.293T>C (p.L98P)
ISCN -
DB-ID DCAF11_000002
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.-11850A>G r.(?) p.(=)
DCAF11 NM_001163484.1 ?/. - c.-32421A>G r.(?) p.(=)
CPNE6 NM_006032.2 ?/. - c.*4706A>G r.(=) p.(=)
NRL NM_006177.3 ?/. - c.293T>C r.(?) p.(Leu98Pro)