chr1:55518073:T>C Detail (hg19) (PCSK9)

Information

Genome

Assembly Position
hg19 chr1:55,518,073-55,518,073
hg38 chr1:55,052,400-55,052,400 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_174936.3:c.646T>C NP_777596.2:p.Phe216Leu
Ensemble ENST00000302118.5:c.646T>C ENST00000302118.5:p.Phe216Leu
ENST00000673903.1:c.271T>C ENST00000673903.1:p.Phe91Leu
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 607786 OMIM
HGNC 20001 HGNC
Ensembl ENSG00000169174 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 2008-02-12 no assertion criteria provided Hypercholesterolemia, autosomal dominant, 3 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Hypercholesterolemia, autosomal dominant, 3 NA CLINVAR Detail
0.360 Hypercholesterolemia, autosomal dominant, 3 We mapped a third locus associated with ADH, HCHOLA3 at 1p32, and now report two... UNIPROT 12730697 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_174936.4(PCSK9):c.646T>C (p.Phe216Leu) AND Hypercholesterolemia, autosomal dominant, 3 ClinVar Detail
NA DisGeNET Detail
We mapped a third locus associated with ADH, HCHOLA3 at 1p32, and now report two mutations in the ge... 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
rs28942112 dbSNP
Genome
hg19
Position
chr1:55,518,073-55,518,073
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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