chr21:45530890:G>A Detail (hg38) (SLC19A1)

Information

Genome

Assembly Position
hg19 chr21:46,950,804-46,950,804 View the variant detail on this assembly version.
hg38 chr21:45,530,890-45,530,890

HGVS

Type Transcript Protein
RefSeq NM_194255.2:c.1031C>T NP_919231.1:p.Ala344Val
NM_001205206.1:c.1031C>T NP_001192135.1:p.Ala344Val
NM_001205207.1:c.911C>T NP_001192136.1:p.Ala304Val
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 600424 OMIM
HGNC 10937 HGNC
Ensembl ENSG00000173638 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
0.014 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.003 Acute lymphocytic leukemia We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR... BeFree 18458567 Detail
0.239 Coronary heart disease Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958... BeFree 23701284 Detail
0.016 Acute lymphocytic leukemia We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR... BeFree 18458567 Detail
0.003 hyperhomocysteinemia To the best of our knowledge, this is the first family with multiple AIS patient... BeFree 18958479 Detail
0.003 retinoblastoma A case-control study of 72 retinoblastoma cases and 98 cancer-free children cont... BeFree 20310006 Detail
0.102 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
<0.001 Central neuroblastoma The aim of this study was to investigate the association between MTHFR rs1801133... BeFree 25536437 Detail
0.028 Malignant neoplasm of breast In this case-control study, we investigated the association between MTHFR C677T ... BeFree 22134752 Detail
0.337 hyperhomocysteinemia To the best of our knowledge, this is the first family with multiple AIS patient... BeFree 18958479 Detail
<0.001 retinoblastoma A case-control study of 72 retinoblastoma cases and 98 cancer-free children cont... BeFree 20310006 Detail
0.153 Down syndrome In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T... BeFree 18273817 Detail
0.003 Acute lymphocytic leukemia Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... BeFree 22838948 Detail
<0.001 Precursor Cell Lymphoblastic Leukemia Lymphoma Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... BeFree 22838948 Detail
0.016 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.146 Homocysteinemia To the best of our knowledge, this is the first family with multiple AIS patient... BeFree 18958479 Detail
0.020 rheumatoid arthritis Frequencies of MTHFR C677T and A1298C were similar to those reported in Japanese... BeFree 17965559 Detail
0.003 Coronary heart disease Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958... BeFree 23701284 Detail
0.099 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.007 breast carcinoma In this case-control study, we investigated the association between MTHFR C677T ... BeFree 22134752 Detail
0.010 Precursor Cell Lymphoblastic Leukemia Lymphoma Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... BeFree 22838948 Detail
0.132 Precursor Cell Lymphoblastic Leukemia Lymphoma We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR... BeFree 18458567 Detail
0.232 Precursor Cell Lymphoblastic Leukemia Lymphoma Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... BeFree 22838948 Detail
0.017 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.232 Precursor Cell Lymphoblastic Leukemia Lymphoma We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR... BeFree 18458567 Detail
0.096 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.004 Acute lymphocytic leukemia Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... BeFree 22838948 Detail
0.135 Down syndrome In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T... BeFree 18273817 Detail
0.003 nephroblastoma The aim of this study was to investigate the association between MTHFR rs1801133... BeFree 25536437 Detail
0.010 Coronary heart disease Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958... BeFree 23701284 Detail
<0.001 Acute lymphocytic leukemia Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... BeFree 22838948 Detail
<0.001 neuroblastoma The aim of this study was to investigate whether the genetic polymorphisms MTHFR... BeFree 24771227 Detail
0.016 Acute lymphocytic leukemia Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... BeFree 22838948 Detail
0.006 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
<0.001 neuroblastoma The aim of this study was to investigate whether the genetic polymorphisms MTHFR... BeFree 24771227 Detail
0.257 Cerebrovascular accident Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke. BeFree 18958479 Detail
<0.001 Homocysteinemia To the best of our knowledge, this is the first family with multiple AIS patient... BeFree 18958479 Detail
0.003 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.022 Precursor Cell Lymphoblastic Leukemia Lymphoma Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... BeFree 22838948 Detail
0.040 Down syndrome The aim of the present study was to investigate the effect of polymorphisms C677... BeFree 18273817 Detail
0.014 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.021 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.003 retinoblastoma A case-control study of 72 retinoblastoma cases and 98 cancer-free children cont... BeFree 20310006 Detail
0.017 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
<0.001 Central neuroblastoma The aim of this study was to investigate whether the genetic polymorphisms MTHFR... BeFree 24771227 Detail
<0.001 Central neuroblastoma The aim of this study was to investigate whether the genetic polymorphisms MTHFR... BeFree 24771227 Detail
0.005 breast carcinoma In this case-control study, we investigated the association between MTHFR C677T ... BeFree 22134752 Detail
0.017 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.019 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.132 Precursor Cell Lymphoblastic Leukemia Lymphoma Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... BeFree 22838948 Detail
<0.001 Sporadic Breast Carcinoma Reduced folate carrier 1 (RFC1) G80A and methylenetetrahydrofolate reductase (MT... BeFree 21113649 Detail
0.101 Malignant neoplasm of breast Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
0.035 Malignant neoplasm of breast In this case-control study, we investigated the association between MTHFR C677T ... BeFree 22134752 Detail
0.017 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
<0.001 Precursor cell lymphoblastic lymphoma We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR... BeFree 18458567 Detail
0.239 Down syndrome In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T... BeFree 18273817 Detail
0.005 Cerebrovascular accident Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke. BeFree 18958479 Detail
0.022 breast carcinoma Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 p... BeFree 17180579 Detail
<0.001 neuroblastoma The aim of this study was to investigate the association between MTHFR rs1801133... BeFree 25536437 Detail
<0.001 Acute lymphocytic leukemia Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C142... BeFree 22838948 Detail
Annotation

Annotations

DescrptionSourceLinks
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced ... DisGeNET Detail
Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958A, RFC1-G80A and MTR... DisGeNET Detail
We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced ... DisGeNET Detail
To the best of our knowledge, this is the first family with multiple AIS patients harboring homozygo... DisGeNET Detail
A case-control study of 72 retinoblastoma cases and 98 cancer-free children controls was performed t... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
The aim of this study was to investigate the association between MTHFR rs1801133 (C677T) and RFC-1 r... DisGeNET Detail
In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-... DisGeNET Detail
To the best of our knowledge, this is the first family with multiple AIS patients harboring homozygo... DisGeNET Detail
A case-control study of 72 retinoblastoma cases and 98 cancer-free children controls was performed t... DisGeNET Detail
In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR ... DisGeNET Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... DisGeNET Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
To the best of our knowledge, this is the first family with multiple AIS patients harboring homozygo... DisGeNET Detail
Frequencies of MTHFR C677T and A1298C were similar to those reported in Japanese RA patients, while ... DisGeNET Detail
Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958A, RFC1-G80A and MTR... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-... DisGeNET Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... DisGeNET Detail
We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced ... DisGeNET Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... DisGeNET Detail
In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR ... DisGeNET Detail
The aim of this study was to investigate the association between MTHFR rs1801133 (C677T) and RFC-1 r... DisGeNET Detail
Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958A, RFC1-G80A and MTR... DisGeNET Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... DisGeNET Detail
The aim of this study was to investigate whether the genetic polymorphisms MTHFR C677T and A1298C, M... DisGeNET Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
The aim of this study was to investigate whether the genetic polymorphisms MTHFR C677T and A1298C, M... DisGeNET Detail
Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke. DisGeNET Detail
To the best of our knowledge, this is the first family with multiple AIS patients harboring homozygo... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... DisGeNET Detail
The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
A case-control study of 72 retinoblastoma cases and 98 cancer-free children controls was performed t... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
The aim of this study was to investigate whether the genetic polymorphisms MTHFR C677T and A1298C, M... DisGeNET Detail
The aim of this study was to investigate whether the genetic polymorphisms MTHFR C677T and A1298C, M... DisGeNET Detail
In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... DisGeNET Detail
Reduced folate carrier 1 (RFC1) G80A and methylenetetrahydrofolate reductase (MTHFR) C677T were asso... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
In this case-control study, we investigated the association between MTHFR C677T and A1298C, TYMS 5'-... DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
We investigated preliminarily whether methylenetetrahydrofolate reductase (MTHFR) 677C/T or reduced ... DisGeNET Detail
In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR ... DisGeNET Detail
Two siblings with a homozygous MTHFR C677T (G80A-RFC1) mutation and stroke. DisGeNET Detail
Genetic polymorphisms of glutathione S-transferase (GST) genes including GSTT1 positive/null, GSTM1 ... DisGeNET Detail
The aim of this study was to investigate the association between MTHFR rs1801133 (C677T) and RFC-1 r... DisGeNET Detail
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R... 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
rs368087026 dbSNP
Genome
hg38
Position
chr21:45,530,890-45,530,890
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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