chr5:147211114:G> 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	chr5:147,211,114-147,211,114
hg38	chr5:147,831,551-147,831,551

HGVS

SPINK1

Type	Transcript	Protein
RefSeq	NM_003122.4:c.27delC	NP_003113.2:p.Ser10ValfsTer6
Ensemble	ENST00000296695.10:c.27delC	ENST00000296695.10:p.Ser10ValfsTer6
	ENST00000510027.2:c.27delC	ENST00000510027.2:p.Ser10ValfsTer6

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	Pathogenic
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-01-10	criteria provided, multiple submitters, no conflicts	Hereditary pancreatitis	germline	Detail
Pathogenic	2023-09-28	criteria provided, single submitter	not provided	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.27del (p.Ser10fs) AND Hereditary pancreatitis	ClinVar	Detail
NM_001379610.1(SPINK1):c.27del (p.Ser10fs) AND not provided	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: rs193922659 dbSNP
Genome: hg19
Position: chr5:147,211,114-147,211,114
Variant Type: snv
Reference Allele: G
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8470
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120334
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 2.4930609802715773E-5

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