Variant #0000293258 (NC_000014.8:g.24550448G>C, NRL(NM_006177.3):c.711C>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.24550448G>C
DNA change (hg38) g.24081239G>C
Published as NRL(NM_006177.4):c.711C>G (p.L237=)
ISCN -
DB-ID NRL_000004 See all 2 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) 0.00046 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCK2 NM_001018073.1 -/. - c.-13167G>C r.(?) p.(=)
DCAF11 NM_001163484.1 -/. - c.-33738G>C r.(?) p.(=)
CPNE6 NM_006032.2 -/. - c.*3389G>C r.(=) p.(=)
NRL NM_006177.3 -/. - c.711C>G r.(?) p.(Leu237=)