chr6:52024819:G>A Detail (hg38) (PKHD1, LOC126859690)

Information

Genome

Assembly Position
hg19 chr6:51,889,617-51,889,617 View the variant detail on this assembly version.
hg38 chr6:52,024,819-52,024,819

HGVS

Type Transcript Protein
RefSeq NM_170724.2:c.4991C>T NP_733842.2:p.Ser1664Phe
NM_138694.3:c.4991C>T NP_619639.3:p.Ser1664Phe
Ensemble ENST00000340994.4:c.4991C>T ENST00000340994.4:p.Ser1664Phe
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
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
Pathogenic 2002-03-01 no assertion criteria provided autosomal recessive polycystic kidney disease germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.673 autosomal recessive polycystic kidney disease NA CLINVAR Detail
0.673 autosomal recessive polycystic kidney disease Spectrum of mutations in the gene for autosomal recessive polycystic kidney dise... UNIPROT 12506140 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_138694.4(PKHD1):c.4991C>T (p.Ser1664Phe) AND Autosomal recessive polycystic kidney disease ClinVar Detail
NA DisGeNET Detail
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). 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
rs28937907 dbSNP
Genome
hg38
Position
chr6:52,024,819-52,024,819
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser