chr5:147207616:G>A Detail (hg19) (SPINK1)

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

Genome

Assembly	Position
hg19	chr5:147,207,616-147,207,616
hg38	chr5:147,828,053-147,828,053 View the variant detail on this assembly version.

HGVS

SPINK1

Type	Transcript	Protein
RefSeq	NM_003122.4:c.163C>T	NP_003113.2:p.Pro55Ser
Ensemble	ENST00000296695.10:c.163C>T	ENST00000296695.10:p.Pro55Ser
	ENST00000510027.2:c.163C>T	ENST00000510027.2:p.Pro55Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Benign Likely benign
Review star
Show details

Links

SPINK1

Type	Database	ID	Link
Gene	MIM	167790	OMIM
	HGNC	11244	HGNC
	Ensembl	ENSG00000164266	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM223032	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign Likely benign	2024-01-31	criteria provided, multiple submitters, no conflicts	Hereditary pancreatitis	germline unknown	Detail
Likely benign	2023-08-15	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Likely benign	2019-01-01	criteria provided, single submitter	Tropical pancreatitis	unknown	Detail
Benign Likely benign	2023-10-26	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Benign	2020-11-19	criteria provided, single submitter	SPINK1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.245	Hereditary pancreatitis	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) AND Hereditary pancreatitis	ClinVar	Detail
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) AND not specified	ClinVar	Detail
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) AND Tropical pancreatitis	ClinVar	Detail
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) AND not provided	ClinVar	Detail
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) AND SPINK1-related disorder	ClinVar	Detail
NA	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: -
dbSNP: rs111966833 dbSNP
Genome: hg19
Position: chr5:147,207,616-147,207,616
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8406
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1896264572924102E-4
Chromosome Counts in All Race (ExAC): 117192
Allele Counts in All Race (ExAC): 541
Heterozygous Counts in All Race (ExAC): 535
Homozygous Counts in All Race (ExAC): 3
Allele Frequency in All Race (ExAC): 0.0046163560652604275

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