chr6:51941132:C>G Detail (hg19) (PKHD1)

Information

Genome

Assembly Position
hg19 chr6:51,941,132-51,941,132
hg38 chr6:52,076,334-52,076,334 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_170724.2:c.391-1G>C
NM_138694.3:c.391-1G>C
Ensemble ENST00000340994.4:c.391-1G>C
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 2012-09-12 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.391-1G>C AND not provided ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs398124485 dbSNP
Genome
hg19
Position
chr6:51,941,132-51,941,132
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser