Variant #0000609958 (NC_000006.11:g.118880110G>A, PLN(NM_002667.3):c.26G>A)

Chromosome 6
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.118880110G>A
DNA change (hg38) g.118558947G>A
Published as PLN(NM_002667.3):c.26G>A (p.R9H)
ISCN -
DB-ID PLN_000021 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) 1.0E-5 View details
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     
CEP85L NM_001042475.2 +/. - c.1020+6582C>T r.(=) p.(=)
PLN NM_002667.3 +/. - c.26G>A r.(?) p.(Arg9His)