not provided
1000G_ALL
not provided
1000G_AMR
not provided
1000G_EAS
not provided
1000G_EUR
not provided
1000G_SAS
4.689275
CADD
not provided
COSMIC
chr8
Chr
not provided
Clinvar
DND-41:H3K27me3,A549:H3K27me3,HSMMtube:H3K27me3
ENCODE
not provided
ESP6500_AA
not provided
ESP6500_ALL
not provided
ESP6500_EA
19818595
End
protein_coding
Exonic|Biotype
SAMN30308397
External Id
not provided
FATHMM
splice_donor_variant+intron_variant
Func
6.07
GERP++_NR
6.07
GERP++_RS
not provided
GWAS
LPL
Gene
not provided
HGMD
The First Affiliated Hospital of Guangxi Medical University
INSDC center name
2023-10-01T00:52:29.883Z
INSDC first public
2023-10-01T00:52:29.883Z
INSDC last update
SRS14646394
INSDC secondary accession
live
INSDC status
HIGH
Impact
LPL:0.14(7);
LOF|NMD
not provided
LRT
not provided
MetaLR
not provided
MetaSVM
not provided
MutationAssessor
1(D)
MutationTaster
Human
NCBI submission model
Human.1.0
NCBI submission package
C
Obs
hom
Otherinfo
not provided
PVFD
not provided
PolyPhen2
G
Ref
not provided
SIFT
SRS14646394
SRA accession
18.1531
SiPhy_29way_logOdds
19818595
Start
ENST00000311322:c.1322+1G>C
Transcript
.
VEST3
3 month old
age
not provided
biomaterial provider
not provided
dbSNPv151_GRCh37
splice_donor_variant+intron_variant(HIGH|||c.1322+1G>C|475|LPL|protein_coding|CODING|ENST00000311322|8|C)
isoform
not provided
isolate
Homo sapiens
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
1
phastCons100way_vertebrate
0.99
phastCons20way_mammalian
9.507
phyloP100way_vertebrate
1.048
phyloP20way_mammalian
male
sex
peripheral blood
tissue
Human sample from Homo sapiens
title