chr12:112871372:A>G Detail (hg19) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,871,372-112,871,372
hg38 chr12:112,433,568-112,433,568 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.15-12708A>G
NM_080601.1:c.15-12708A>G
NM_001330437.1:c.15-12708A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 176876 OMIM
HGNC 9644 HGNC
Ensembl ENSG00000179295 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv47281315 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 coronary artery disease Further meta-analyses showed that the rs12526453 of PHACTR11 gene (OR = 1.14, p ... BeFree 25123136 Detail
Annotation

Annotations

DescrptionSourceLinks
Further meta-analyses showed that the rs12526453 of PHACTR11 gene (OR = 1.14, p &lt; 0.0001, random-... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11066301 dbSNP
Genome
hg19
Position
chr12:112,871,372-112,871,372
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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