Variant #0000305911 (NC_000006.11:g.118880263G>C, PLN(NM_002667.3):c.*20G>C)

Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.118880263G>C
DNA change (hg38) g.118559100G>C
Published as PLN(NM_002667.3):c.*20G>C
ISCN -
DB-ID PLN_000030
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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CEP85L NM_001042475.2 ?/. - c.1020+6429C>G r.(=) p.(=)
PLN NM_002667.3 ?/. - c.*20G>C r.(=) p.(=)