chr6:52024589:C>T Detail (hg38) (PKHD1, LOC126859690)

Information

Genome

Assembly Position
hg19 chr6:51,889,387-51,889,387 View the variant detail on this assembly version.
hg38 chr6:52,024,589-52,024,589

HGVS

Type Transcript Protein
RefSeq NM_170724.2:c.5221G>A NP_733842.2:p.Val1741Met
NM_138694.3:c.5221G>A NP_619639.3:p.Val1741Met
Ensemble ENST00000340994.4:c.5221G>A ENST00000340994.4:p.Val1741Met
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 2023-11-20 criteria provided, conflicting interpretations autosomal recessive polycystic kidney disease germline unknown Detail
Uncertain significance 2023-08-28 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2023-09-20 criteria provided, single submitter polycystic kidney disease 4 germline unknown Detail
Uncertain significance 2021-12-21 criteria provided, single submitter Kidney disorder 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.5221G>A (p.Val1741Met) AND Autosomal recessive polycystic kidney disease ClinVar Detail
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) AND not provided ClinVar Detail
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) AND Polycystic kidney disease 4 ClinVar Detail
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) AND Kidney 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
rs137852946 dbSNP
Genome
hg38
Position
chr6:52,024,589-52,024,589
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8570
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)
119056
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6798817363257627E-5
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