chr10:44372809:C>T Detail (hg38) (CXCL12)

Information

Genome

Assembly Position
hg19 chr10:44,868,257-44,868,257 View the variant detail on this assembly version.
hg38 chr10:44,372,809-44,372,809

HGVS

Type Transcript Protein
RefSeq NM_000609.6:c.*519G>A
NM_001277990.1:c.*79G>A
Ensemble ENST00000374429.6:c.*519G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.322
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 600835 OMIM
HGNC 10672 HGNC
Ensembl ENSG00000107562 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv39129376 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-11-12 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.005 Leukemia, Lymphocytic, Acute, L1 Genetic polymorphisms in the 3'UTR region of the CXCL12 (rs1801157) and TP53 cod... BeFree 23653000 Detail
0.181 Neoplasm Metastasis Genetic polymorphisms in the 3'UTR region of the CXCL12 (rs1801157) and TP53 cod... BeFree 23653000 Detail
0.323 Neoplasm Metastasis Genetic polymorphisms in the 3'UTR region of the CXCL12 (rs1801157) and TP53 cod... BeFree 23653000 Detail
0.029 Malignant neoplasm of breast Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) an... BeFree 19196101 Detail
0.006 Malignant neoplasm of breast Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) an... BeFree 19196101 Detail
0.004 breast carcinoma Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) an... BeFree 19196101 Detail
0.026 breast carcinoma Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) an... BeFree 19196101 Detail
0.065 breast carcinoma Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) an... BeFree 19196101 Detail
0.105 Malignant neoplasm of breast Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) an... BeFree 19196101 Detail
0.181 Neoplasm Metastasis The single-nucleotide polymorphism (SNP) rs1801157 (previously known as CXCL12-A... BeFree 21592819 Detail
0.015 breast carcinoma CXCL12 rs1801157 polymorphism and expression in peripheral blood from breast can... BeFree 21592819 Detail
0.024 Malignant neoplasm of breast CXCL12 rs1801157 polymorphism and expression in peripheral blood from breast can... BeFree 21592819 Detail
0.026 breast carcinoma The single-nucleotide polymorphism (SNP) rs1801157 (previously known as CXCL12-A... BeFree 19927352 Detail
0.015 breast carcinoma CXCL12 rs1801157 polymorphism in patients with breast cancer, Hodgkin's lymphoma... BeFree 19927352 Detail
0.246 Neoplasm Metastasis The single-nucleotide polymorphism (SNP) rs1801157 (previously known as CXCL12-A... BeFree 19927352 Detail
0.024 Malignant neoplasm of breast CXCL12 rs1801157 polymorphism in patients with breast cancer, Hodgkin's lymphoma... BeFree 19927352 Detail
0.246 Neoplasm Metastasis The single-nucleotide polymorphism (SNP) rs1801157 (previously known as CXCL12-A... BeFree 21592819 Detail
0.013 multiple sclerosis [CXCL12 rs1801157 polymorphism in patients with breast cancer, Hodgkin\'s lympho... GAD 19927352 Detail
0.029 Malignant neoplasm of breast The single-nucleotide polymorphism (SNP) rs1801157 (previously known as CXCL12-A... BeFree 19927352 Detail
0.181 Neoplasm Metastasis SNP rs1801157 significantly correlates with distant metastasis in CXCL12 express... BeFree 21584490 Detail
0.181 Neoplasm Metastasis The single-nucleotide polymorphism (SNP) rs1801157 (previously known as CXCL12-A... BeFree 19927352 Detail
0.004 Carcinogenesis CXCL12 has been implicated in human carcinogenesis, but the association between ... BeFree 22939870 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000609.7(CXCL12):c.*519G>A AND not provided ClinVar Detail
Genetic polymorphisms in the 3'UTR region of the CXCL12 (rs1801157) and TP53 codon 72 (rs1042522) ge... DisGeNET Detail
Genetic polymorphisms in the 3'UTR region of the CXCL12 (rs1801157) and TP53 codon 72 (rs1042522) ge... DisGeNET Detail
Genetic polymorphisms in the 3'UTR region of the CXCL12 (rs1801157) and TP53 codon 72 (rs1042522) ge... DisGeNET Detail
Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs31366... DisGeNET Detail
Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs31366... DisGeNET Detail
Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs31366... DisGeNET Detail
Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs31366... DisGeNET Detail
Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs31366... DisGeNET Detail
Similarly, the SNP barcode of rs12812942-rs2228014-rs3025039 (CD4-CXCR4-VEGF) and rs12812942-rs31366... DisGeNET Detail
The single-nucleotide polymorphism (SNP) rs1801157 (previously known as CXCL12-A/SDF1-3'A) in the CX... DisGeNET Detail
CXCL12 rs1801157 polymorphism and expression in peripheral blood from breast cancer patients. DisGeNET Detail
CXCL12 rs1801157 polymorphism and expression in peripheral blood from breast cancer patients. DisGeNET Detail
The single-nucleotide polymorphism (SNP) rs1801157 (previously known as CXCL12-A/ stromal cell-deriv... DisGeNET Detail
CXCL12 rs1801157 polymorphism in patients with breast cancer, Hodgkin's lymphoma, and non-Hodgkin's ... DisGeNET Detail
The single-nucleotide polymorphism (SNP) rs1801157 (previously known as CXCL12-A/ stromal cell-deriv... DisGeNET Detail
CXCL12 rs1801157 polymorphism in patients with breast cancer, Hodgkin's lymphoma, and non-Hodgkin's ... DisGeNET Detail
The single-nucleotide polymorphism (SNP) rs1801157 (previously known as CXCL12-A/SDF1-3'A) in the CX... DisGeNET Detail
[CXCL12 rs1801157 polymorphism in patients with breast cancer, Hodgkin\'s lymphoma, and non-Hodgkin\... DisGeNET Detail
The single-nucleotide polymorphism (SNP) rs1801157 (previously known as CXCL12-A/ stromal cell-deriv... DisGeNET Detail
SNP rs1801157 significantly correlates with distant metastasis in CXCL12 expressing esophagogastric ... DisGeNET Detail
The single-nucleotide polymorphism (SNP) rs1801157 (previously known as CXCL12-A/ stromal cell-deriv... DisGeNET Detail
CXCL12 has been implicated in human carcinogenesis, but the association between the most-studied G80... 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
rs1801157 dbSNP
Genome
hg38
Position
chr10:44,372,809-44,372,809
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1801157
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3218
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5394
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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