Variant #0000541685 (NC_000010.10:g.96043599G>T, PLCE1(NM_016341.3):c.4848G>T)

Chromosome 10
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.96043599G>T
DNA change (hg38) g.94283842G>T
Published as PLCE1(NM_001165979.1):c.3924G>T (p.(Gln1308His))
ISCN -
DB-ID PLCE1_000043
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) 4.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLCE1 NM_016341.3 -?/. - c.4848G>T r.(?) p.(Gln1616His)
PLCE1-AS1 NR_033969.1 -?/. - n.231-356C>A r.(?) -