Variant #0000297076 (NC_000010.10:g.96039597G>C, PLCE1(NM_016341.3):c.4724G>C)

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.96039597G>C
DNA change (hg38) g.94279840G>C
Published as PLCE1(NM_016341.3):c.4724G>C (p.R1575P), PLCE1-AS1(NR_033969.1):n.858C>G
ISCN -
DB-ID PLCE1_000018 See all 2 reported entries
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) 0.43481 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PLCE1 NM_016341.3 -/. - c.4724G>C r.(?) p.(Arg1575Pro)
PLCE1-AS1 NR_033969.1 -/. - n.858C>G r.(?) -