chr6:52026049:G> Detail (hg38) (PKHD1)

Information

Genome

Assembly Position
hg19 chr6:51,890,847-51,890,847 
hg38 chr6:52,026,049-52,026,049

HGVS

Type Transcript Protein
RefSeq NM_170724.2:c.3761delC NP_733842.2:p.Gln1256ArgfsTer47
NM_138694.3:c.3761delC NP_619639.3:p.Gln1256ArgfsTer47
Ensemble ENST00000340994.4:c.3761delC ENST00000340994.4:p.Gln1256ArgfsTer47
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 Conflicting classifications of pathogenicity
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2020-09-29 criteria provided, conflicting interpretations autosomal recessive polycystic kidney disease germline unknown Detail
Likely pathogenic 2017-04-04 no assertion criteria provided Autosomal dominant polycystic liver disease germline Detail
Conflicting interpretations of pathogenicity 2021-06-30 criteria provided, conflicting interpretations polycystic kidney disease 4 germline unknown Detail
Likely pathogenic 2022-12-05 criteria provided, single submitter not provided 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

DescrptionSourceLinks
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) AND Autosomal recessive polycystic kidney disease ClinVar Detail
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) AND Autosomal dominant polycystic liver disease ClinVar Detail
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) AND Polycystic kidney disease 4 ClinVar Detail
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) 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
rs746972457 dbSNP
Genome
hg38
Position
chr6:52,026,049-52,026,049
Variant Type
snv
Reference Allele
G
Alternative Allele
-
East Asian Chromosome Counts (ExAC)
8600
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)
120590
Allele Counts in All Race (ExAC)
48
Heterozygous Counts in All Race (ExAC)
48
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.9804295546894434E-4
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