Variant #0000251129 (NC_000010.10:g.96039606A>G, PLCE1(NM_016341.3):c.4733A>G)

Chromosome 10
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.96039606A>G
DNA change (hg38) g.94279849A>G
Published as PLCE1(NM_016341.3):c.4733A>G (p.N1578S)
ISCN -
DB-ID PLCE1-AS1_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00178 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLCE1 NM_016341.3 -/. - c.4733A>G r.(?) p.(Asn1578Ser)
PLCE1-AS1 NR_033969.1 -/. - n.849T>C r.(?) -