chrX:110366424:C>A Detail (hg19) (PAK3)

Information

Genome

Assembly Position
hg19 chrX:110,366,424-110,366,424
hg38 chrX:111,123,196-111,123,196 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001324328.1:c.93C>A NP_001311257.1:p.Ser31Arg
NM_001128173.2:c.93C>A NP_001121645.1:p.Ser31Arg
NM_001324326.1:c.93C>A NP_001311255.1:p.Ser31Arg
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 300142 OMIM
HGNC 8592 HGNC
Ensembl ENSG00000077264 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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Carcinoma of lung We therefore investigated the combined effects of polymorphisms in TP53 (Arg72Pr... BeFree 17059853 Detail
<0.001 Malignant neoplasm of lung We therefore investigated the combined effects of polymorphisms in TP53 (Arg72Pr... BeFree 17059853 Detail
0.001 colorectal carcinoma Association between CDKN1A Ser31Arg and C20T gene polymorphisms and colorectal c... BeFree 20363991 Detail
<0.001 squamous cell carcinoma The results for the p21 Ser31Arg polymorphism suggested that 31Ser is a moderate... BeFree 17059853 Detail
0.001 colorectal cancer Association between CDKN1A Ser31Arg and C20T gene polymorphisms and colorectal c... BeFree 20363991 Detail
Annotation

Annotations

DescrptionSourceLinks
We therefore investigated the combined effects of polymorphisms in TP53 (Arg72Pro) and p21/CDKN1A (S... DisGeNET Detail
We therefore investigated the combined effects of polymorphisms in TP53 (Arg72Pro) and p21/CDKN1A (S... DisGeNET Detail
Association between CDKN1A Ser31Arg and C20T gene polymorphisms and colorectal cancer risk and progn... DisGeNET Detail
The results for the p21 Ser31Arg polymorphism suggested that 31Ser is a moderate-risk allele for squ... DisGeNET Detail
Association between CDKN1A Ser31Arg and C20T gene polymorphisms and colorectal cancer risk and progn... 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
rs1805077 dbSNP
Genome
hg19
Position
chrX:110,366,424-110,366,424
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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