chr6:52025077:T> Detail (hg38) (PKHD1, LOC126859690)

Information

Genome

Assembly Position
hg19 chr6:51,889,875-51,889,875 
hg38 chr6:52,025,077-52,025,077

HGVS

Type Transcript Protein
RefSeq NM_170724.2:c.4733delA NP_733842.2:p.Tyr1578PhefsTer14
NM_138694.3:c.4733delA NP_619639.3:p.Tyr1578PhefsTer14
Ensemble ENST00000340994.4:c.4733delA ENST00000340994.4:p.Tyr1578PhefsTer14
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-12-21 criteria provided, multiple submitters, no conflicts autosomal recessive polycystic kidney disease germline unknown Detail
Pathogenic 2013-11-22 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.4733del (p.Tyr1578fs) AND Autosomal recessive polycystic kidney disease ClinVar Detail
NM_138694.4(PKHD1):c.4733del (p.Tyr1578fs) 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
rs727504087 dbSNP
Genome
hg38
Position
chr6:52,025,077-52,025,077
Variant Type
snv
Reference Allele
T
Alternative Allele
-
Genome browser