chr9:33797991:G>A Detail (hg19) (PRSS3)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr9:33,797,991-33,797,991
hg38	chr9:33,797,993-33,797,993 View the variant detail on this assembly version.

HGVS

PRSS3

Type	Transcript	Protein
RefSeq	NM_007343.3:c.41G>A	NP_031369.2:p.Arg14His
	NM_002771.3:c.365G>A	NP_002762.2:p.Arg122His
	NM_001197098.1:c.344G>A	NP_001184027.1:p.Arg115His
Ensemble	ENST00000361005.10:c.41G>A	ENST00000361005.10:p.Arg14His
	ENST00000379405.4:c.365G>A	ENST00000379405.4:p.Arg122His
	ENST00000429677.8:c.344G>A	ENST00000429677.8:p.Arg115His

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:0.062
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:0.008

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

PRSS3

Type	Database	ID	Link
Gene	MIM	613578	OMIM
	HGNC	9486	HGNC
	Ensembl	ENSG00000010438	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv36056837	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.004	acute pancreatitis	A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurre...	BeFree	21303407	Detail
0.007	acute pancreatitis	The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were asso...	BeFree	21303407	Detail
0.002	acute pancreatitis	The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were asso...	BeFree	21303407	Detail
<0.001	acute pancreatitis	The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were asso...	BeFree	21303407	Detail
<0.001	acute pancreatitis	A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurre...	BeFree	21303407	Detail

Annotation

Annotations

Descrption	Source	Links
A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and heal...	DisGeNET	Detail
The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurren...	DisGeNET	Detail
The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurren...	DisGeNET	Detail
The PRSS1 p.R122H mutation, SPINK1 p.N34S, and PRSS3 p.E32del variants were associated with recurren...	DisGeNET	Detail
A total of 261 patients with AP (174 with a sentinel attack, and 87 with recurrent attacks) and heal...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
Genome: hg19
Position: chr9:33,797,991-33,797,991
Variant Type: snv
Reference Allele: G
Alternative Allele: A
Filtering Status (HGVD): PASS
Filtering Status (HGVD): VQSRTrancheSNP99.00to99.90
# of samples (HGVD): 1210
Mean of sample read depth (HGVD): 370.30
Standard deviation of sample read depth (HGVD): 228.43
Number of reference allele (HGVD): 2269
Number of alternative allele (HGVD): 151
Allele Frequency (HGVD): 0.062396694214876036
Gene Symbol (HGVD): PRSS3
East Asian Chromosome Counts (ExAC): 8526
East Asian Allele Counts (ExAC): 65
East Asian Heterozygous Counts (ExAC): 65
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0076237391508327465
Chromosome Counts in All Race (ExAC): 115946
Allele Counts in All Race (ExAC): 3825
Heterozygous Counts in All Race (ExAC): 3825
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 0.03298949510979249

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