chr6:51847966:G>T Detail (hg38) (PKHD1)

Information

Genome

Assembly Position
hg19 chr6:51,712,764-51,712,764 View the variant detail on this assembly version.
hg38 chr6:51,847,966-51,847,966

HGVS

Type Transcript Protein
RefSeq NM_170724.2:c.7916C>A NP_733842.2:p.Ser2639Ter
NM_138694.3:c.7916C>A NP_619639.3:p.Ser2639Ter
Ensemble ENST00000340994.4:c.7916C>A ENST00000340994.4:p.Ser2639Ter
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 tgv341929762 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-11-09 criteria provided, multiple submitters, no conflicts autosomal recessive polycystic kidney disease germline unknown Detail
Pathogenic 2013-12-09 criteria provided, single submitter polycystic kidney disease unknown Detail
Pathogenic 2023-01-12 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-10-20 criteria provided, multiple submitters, no conflicts polycystic kidney disease 4 germline unknown Detail
Pathogenic 2021-07-10 criteria provided, single submitter 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.7916C>A (p.Ser2639Ter) AND Autosomal recessive polycystic kidney disease ClinVar Detail
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) AND Polycystic kidney disease ClinVar Detail
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) AND not provided ClinVar Detail
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) AND Polycystic kidney disease 4 ClinVar Detail
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) AND Abnormality of the genitourinary system 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
rs181208607 dbSNP
Genome
hg38
Position
chr6:51,847,966-51,847,966
Variant Type
snv
Reference Allele
G
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8610
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)
121002
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)
1.652865241896828E-5
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