chr16:2110152:CT> Detail (hg38) (PKD1)

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

Genome

Assembly	Position
hg19	chr16:2,160,153-2,160,154
hg38	chr16:2,110,152-2,110,153

HGVS

PKD1

Type	Transcript	Protein
RefSeq	NM_001009944.2:c.5014_5015delAG	NP_001009944.2:p.Arg1672GlyfsTer98
	NM_000296.3:c.5014_5015delAG	NP_000287.3:p.Arg1672GlyfsTer98
Ensemble	ENST00000262304.9:c.5014_5015delAG	ENST00000262304.9:p.Arg1672GlyfsTer98
	ENST00000423118.5:c.5014_5015delAG	ENST00000423118.5:p.Arg1672GlyfsTer98

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

PKD1

Type	Database	ID	Link
Gene	MIM	601313	OMIM
	HGNC	9008	HGNC
	Ensembl	ENSG00000008710	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	2021-11-02	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Pathogenic	2023-06-19	criteria provided, multiple submitters, no conflicts	Polycystic kidney disease, adult type	germline paternal unknown	Detail
Pathogenic		no assertion criteria provided	polycystic kidney disease	unknown	Detail
Pathogenic	2022-01-05	criteria provided, single submitter	Polycystic liver disease 1	germline	Detail
Pathogenic	2023-11-14	criteria provided, single submitter	Inborn genetic diseases	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) AND not provided	ClinVar	Detail
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) AND Polycystic kidney disease, adult type	ClinVar	Detail
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) AND Polycystic kidney disease	ClinVar	Detail
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) AND Polycystic liver disease 1	ClinVar	Detail
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) AND Inborn genetic diseases	ClinVar	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: rs1555455457 dbSNP
Genome: hg38
Position: chr16:2,110,152-2,110,153
Variant Type: snv
Reference Allele: CT
Alternative Allele: -

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