Variant #0000657424 (NC_000014.8:g.24567504C>T, NRL(NM_006177.3):c.-13803G>A)

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.24567504C>T
DNA change (hg38) g.24098295C>T
Published as PCK2(NM_004563.3):c.368C>T (p.P123L)
ISCN -
DB-ID DCAF11_000008
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) 0.0006 View details
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.368C>T r.(?) p.(Pro123Leu)
DCAF11 NM_001163484.1 -?/. - c.-16682C>T r.(?) p.(=)
NRL NM_006177.3 -?/. - c.-13803G>A r.(?) p.(=)