chr6:51908519:G>A Detail (hg19) (PKHD1)

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

Genome

Assembly	Position
hg19	chr6:51,908,519-51,908,519
hg38	chr6:52,043,721-52,043,721 View the variant detail on this assembly version.

HGVS

PKHD1

Type	Transcript	Protein
RefSeq	NM_170724.2:c.2725C>T	NP_733842.2:p.Arg909Ter
	NM_138694.3:c.2725C>T	NP_619639.3:p.Arg909Ter
Ensemble	ENST00000340994.4:c.2725C>T	ENST00000340994.4:p.Arg909Ter
	ENST00000371117.8:c.2725C>T	ENST00000371117.8:p.Arg909Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

Links

PKHD1

Type	Database	ID	Link
Gene	MIM	606702	OMIM
	HGNC	9016	HGNC
	Ensembl	ENSG00000170927	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM6027248	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2024-01-19	criteria provided, multiple submitters, no conflicts	autosomal recessive polycystic kidney disease	germline	Detail
Pathogenic	2022-11-28	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-05-08	criteria provided, multiple submitters, no conflicts	polycystic kidney disease 4	germline unknown	Detail
Pathogenic	2024-02-05	criteria provided, single submitter	PKHD1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.673	autosomal recessive polycystic kidney disease	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) AND Autosomal recessive polycystic kidney disease	ClinVar	Detail
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) AND not provided	ClinVar	Detail
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) AND Polycystic kidney disease 4	ClinVar	Detail
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) AND PKHD1-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: rs727504089 dbSNP
Genome: hg19
Position: chr6:51,908,519-51,908,519
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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