phospholipase A2, group V [Source:HGNC Symbol;Acc:9038]
1
20354672
20417683
1
p36.13
20354672
20417683
PLA2G5
PLA2G5-002
HGNC Symbol
HGNC transcript name
8
44.61
protein_coding
processed_transcript
ensembl_hava
havana
KNOWN
KNOWN
5322
9038
PLA2G5
27511
MSeqDR Master Exome Data Set M1: 117 entries from same gene
No.
Chr
Position
Reference
Variant
EnsemblTranscriptID
EnsemblGeneID
Gene_Start
Gene_End
EnsemblProteinID
Gene
strand
Uniprot
cChange
pChange
Nature
dbSNP
Freq
EVS
phastCons
SIFT
Polyphen
HGMD
type
samples
1
1
20395401
C
A
ENST00000460175
ENSG00000127472
20354672
20417683
-
PLA2G5
1
-
c.373C>A
p.P125T
non-syn
rs11573185
0.5189
-
-
-
-
-
het
322
2
1
20395401
C
A
ENST00000460175
ENSG00000127472
20354672
20417683
-
PLA2G5
1
-
c.373C>A
p.P125T
non-syn
rs11573185
0.5189
-
-
-
-
-
hom
203
3
1
20395401
C
A
ENST00000465698
ENSG00000127472
20354672
20417683
-
PLA2G5
1
-
c.377C>A
p.P126H
non-syn
rs11573185
0.5189
-
-
-
-
-
het
322
4
1
20395401
C
A
ENST00000465698
ENSG00000127472
20354672
20417683
-
PLA2G5
1
-
c.377C>A
p.P126H
non-syn
rs11573185
0.5189
-
-
-
-
-
hom
203
5
1
20395401
C
A
ENST00000469069
ENSG00000127472
20354672
20417683
-
PLA2G5
1
-
c.400C>A
p.P134T
non-syn
rs11573185
0.5189
-
-
-
-
-
het
322
6
1
20395401
C
A
ENST00000469069
ENSG00000127472
20354672
20417683
-
PLA2G5
1
-
c.400C>A
p.P134T
non-syn
rs11573185
0.5189
-
-
-
-
-
hom
203
7
1
20395401
C
A
ENST00000486277
ENSG00000127472
20354672
20417683
-
PLA2G5
1
-
c.822C>A
p.P274P
syn
rs11573185
0.5189
-
-
-
-
-
het
322
8
1
20395401
C
A
ENST00000486277
ENSG00000127472
20354672
20417683
-
PLA2G5
1
-
c.822C>A
p.P274P
syn
rs11573185
0.5189
-
-
-
-
-
hom
203
9
1
20395401
C
A
ENST00000489871
ENSG00000127472
20354672
20417683
-
PLA2G5
1
-
c.281C>A
p.P94H
non-syn
rs11573185
0.5189
-
-
-
-
-
het
322
10
1
20395401
C
A
ENST00000489871
ENSG00000127472
20354672
20417683
-
PLA2G5
1
-
c.281C>A
p.P94H
non-syn
rs11573185
0.5189
-
-
-
-
-
hom
203
11
1
20395401
C
A
ENST00000498348
ENSG00000127472
20354672
20417683
-
PLA2G5
1
-
c.236C>A
p.P79H
non-syn
rs11573185
0.5189
-
-
-
-
-
het
322
12
1
20395401
C
A
ENST00000498348
ENSG00000127472
20354672
20417683
-
PLA2G5
1
-
c.236C>A
p.P79H
non-syn
rs11573185
0.5189
-
-
-
-
-
hom
203
13
1
20395405
C
T
ENST00000460175
ENSG00000127472
20354672
20417683
-
PLA2G5
1
-
c.377C>T
p.T126M
non-syn
rs190231665
0.00094
-
-
-
-
-
het
3
14
1
20395405
C
T
ENST00000465698
ENSG00000127472
20354672
20417683
-
PLA2G5
1
-
c.381C>T
p.Y127Y
syn
rs190231665
0.00094
-
-
-
-
-
het
3
15
1
20395405
C
T
ENST00000469069
ENSG00000127472
20354672
20417683
-
PLA2G5
1
-
c.404C>T
p.T135M
non-syn
rs190231665
0.00094
-
-
-
-
-
het
3
16
1
20395405
C
T
ENST00000486277
ENSG00000127472
20354672
20417683
-
PLA2G5
1
-
c.826C>T
p.R276C
non-syn
rs190231665
0.00094
-
-
-
-
-
het
3
17
1
20395405
C
T
ENST00000489871
ENSG00000127472
20354672
20417683
-
PLA2G5
1
-
c.285C>T
p.Y95Y
syn
rs190231665
0.00094
-
-
-
-
-
het
3
18
1
20395405
C
T
ENST00000498348
ENSG00000127472
20354672
20417683
-
PLA2G5
1
-
c.240C>T
p.Y80Y
syn
rs190231665
0.00094
-
-
-
-
-
het
3
19
1
20395484
C
T
ENST00000460175
ENSG00000127472
20354672
20417683
-
PLA2G5
1
-
c.456C>T
p.T152T
syn
NA
-
-
-
-
-
-
het
1
20
1
20395484
C
T
ENST00000465698
ENSG00000127472
20354672
20417683
-
PLA2G5
1
-
c.460C>T
p.Q154*
non-syn
NA
-
-
-
-
-
-
het
1
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