chr16:2116917:A>G Detail (hg38) (PKD1)

Information

Genome

Assembly Position
hg19 chr16:2,166,918-2,166,918 View the variant detail on this assembly version.
hg38 chr16:2,116,917-2,116,917

HGVS

Type Transcript Protein
RefSeq NM_001009944.2:c.1522T>C NP_001009944.2:p.Cys508Arg
NM_000296.3:c.1522T>C NP_000287.3:p.Cys508Arg
Ensemble ENST00000262304.9:c.1522T>C ENST00000262304.9:p.Cys508Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 601313 OMIM
HGNC 9008 HGNC
Ensembl ENSG00000008710 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
Conflicting interpretations of pathogenicity 2022-11-01 criteria provided, conflicting interpretations not provided germline Detail
Pathogenic 2021-10-11 criteria provided, single submitter Polycystic kidney disease, adult type unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Liver cyst The kidney volumes and the number and size of renal and hepatic cysts were marke... BeFree 17048214 Detail
0.205 polycystic kidney disease 1 Association of mutation position in polycystic kidney disease 1 (PKD1) gene and ... UNIPROT 12842373 Detail
0.347 Polycystic Kidney, Autosomal Dominant The kidney volumes and the number and size of renal and hepatic cysts were marke... BeFree 17048214 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg) AND not provided ClinVar Detail
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg) AND Polycystic kidney disease, adult type ClinVar Detail
The kidney volumes and the number and size of renal and hepatic cysts were markedly less in a member... DisGeNET Detail
Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vas... DisGeNET Detail
The kidney volumes and the number and size of renal and hepatic cysts were markedly less in a member... 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
rs58598099 dbSNP
Genome
hg38
Position
chr16:2,116,917-2,116,917
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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