Variant #0000679963 (NC_000014.8:g.24550708_24550715dup, NRL(NM_006177.3):c.452_459dup)

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.24550708_24550715dup
DNA change (hg38) -
Published as -
ISCN -
DB-ID NRL_000010 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 -
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.-12907_-12900dup r.(?) p.(=)
DCAF11 NM_001163484.1 +?/. - c.-33478_-33471dup r.(?) p.(=)
NRL NM_006177.3 +?/. - c.452_459dup r.(?) p.(Arg154AlafsTer10)