chr6:52062655:G>A Detail (hg38) (PKHD1)

Information

Genome

Assembly Position
hg19 chr6:51,927,453-51,927,453 View the variant detail on this assembly version.
hg38 chr6:52,062,655-52,062,655

HGVS

Type Transcript Protein
RefSeq NM_170724.2:c.982C>T NP_733842.2:p.Arg328Ter
NM_138694.3:c.982C>T NP_619639.3:p.Arg328Ter
Ensemble ENST00000340994.4:c.982C>T ENST00000340994.4:p.Arg328Ter
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 Likely pathogenic
Review star
Show details
Links
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 COSM3723064 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-12-10 criteria provided, multiple submitters, no conflicts autosomal recessive polycystic kidney disease germline unknown Detail
Pathogenic 2013-09-06 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-10-06 criteria provided, multiple submitters, no conflicts polycystic kidney disease 4 germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.673 autosomal recessive polycystic kidney disease NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) AND Autosomal recessive polycystic kidney disease ClinVar Detail
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) AND not provided ClinVar Detail
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) AND Polycystic kidney disease 4 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
rs398124503 dbSNP
Genome
hg38
Position
chr6:52,062,655-52,062,655
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8650
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)
121362
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.119905736556747E-5
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