chr6:52043128:TC> Detail (hg38) (PKHD1)

Information

Genome

Assembly Position
hg19 chr6:51,907,926-51,907,927 
hg38 chr6:52,043,128-52,043,129

HGVS

Type Transcript Protein
RefSeq NM_170724.2:c.2827_2828delGA NP_733842.2:p.Asp943HisfsTer15
NM_138694.3:c.2827_2828delGA NP_619639.3:p.Asp943HisfsTer15
Ensemble ENST00000340994.4:c.2827_2828delGA ENST00000340994.4:p.Asp943HisfsTer15
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 2013-01-21 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.2827_2828del (p.Asp943fs) 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
rs398124481 dbSNP
Genome
hg38
Position
chr6:52,043,128-52,043,129
Variant Type
snv
Reference Allele
TC
Alternative Allele
-
Genome browser