chr6:51887654:TC> Detail (hg19) (PKHD1)

Information

Genome

Assembly Position
hg19 chr6:51,887,654-51,887,655
hg38 chr6:52,022,856-52,022,857 

HGVS

Type Transcript Protein
RefSeq NM_170724.2:c.5324_5325delGA NP_733842.2:p.Val1776ProfsTer3
NM_138694.3:c.5324_5325delGA NP_619639.3:p.Val1776ProfsTer3
Ensemble ENST00000340994.4:c.5324_5325delGA ENST00000340994.4:p.Val1776ProfsTer3
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 2014-05-23 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-10-15 criteria provided, single submitter 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
Annotation

Annotations

DescrptionSourceLinks
NM_138694.4(PKHD1):c.5325_5326del (p.Val1776fs) AND not provided ClinVar Detail
NM_138694.4(PKHD1):c.5325_5326del (p.Val1776fs) AND Autosomal recessive polycystic kidney disease 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
rs794727572 dbSNP
Genome
hg19
Position
chr6:51,887,654-51,887,655
Variant Type
snv
Reference Allele
TC
Alternative Allele
-
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