Variant #0000806378 (NC_000014.8:g.24550473del, NRL(NM_006177.3):c.687del)

Chromosome 14
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.24550473del
DNA change (hg38) -
Published as NRL(NM_006177.4):c.687delC (p.D231Tfs*87)
ISCN -
DB-ID CPNE6_000004
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.-13142del r.(?) p.(=)
DCAF11 NM_001163484.1 +/. - c.-33713del r.(?) p.(=)
CPNE6 NM_006032.2 +/. - c.*3414del r.(?) p.(=)
NRL NM_006177.3 +/. - c.687del r.(?) p.(Asp231Thrfs*87)