Variant #0000348488 (NC_000014.8:g.24551906G>T, NRL(NM_006177.3):c.152C>A)

Chromosome 14
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.24551906G>T
DNA change (hg38) g.24082697G>T
Published as -
ISCN -
DB-ID NRL_000008
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) Variant not found in online data sets
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCK2 NM_001018073.1 +?/. - c.-11709G>T r.(?) p.(=)
DCAF11 NM_001163484.1 +?/. - c.-32280G>T r.(?) p.(=)
NRL NM_006177.3 +?/. - c.152C>A r.(?) p.(Pro51His)