Variant #0000527006 (NC_000006.11:g.118880029C>T, PLN(NM_002667.3):c.-56C>T)

Chromosome 6
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.118880029C>T
DNA change (hg38) g.118558866C>T
Published as PLN(NM_002667.3):c.-56C>T
ISCN -
DB-ID PLN_000025 See all 3 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) Retrieve
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CEP85L NM_001042475.2 -?/. - c.1020+6663G>A r.(=) p.(=)
PLN NM_002667.3 -?/. - c.-56C>T r.(?) p.(=)