chr14:62207557:C>T Detail (hg19) (HIF1A, HIF1A-AS3)

Information

Genome

Assembly Position
hg19 chr14:62,207,557-62,207,557
hg38 chr14:61,740,839-61,740,839 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001530.3:c.1744C>T NP_001521.1:p.Pro582Ser
NM_181054.2:c.1744C>T NP_851397.1:p.Pro582Ser
NM_001243084.1:c.1816C>T NP_001230013.1:p.Pro606Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.052
ToMMo:0.054
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.044

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 603348 OMIM
HGNC 4910 HGNC
Ensembl ENSG00000100644 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv51007964 TogoVar
COSMIC COSM5019750 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
other 2022-12-10 no assertion criteria provided cholangiocarcinoma germline Detail
Conflicting interpretations of pathogenicity 2023-11-22 criteria provided, conflicting interpretations not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.004 Squamous cell carcinoma of the head and neck We assessed the difference in transcription activity of two HIF-1alpha polymorph... BeFree 12919954 Detail
0.015 Malignant neoplasm of pancreas Our findings suggest that the HIF-1α A588T polymorphism is significantly associa... BeFree 24293391 Detail
0.051 Neoplasm Metastasis However, it suggests that the therapeutic and prognostic implication of somatic ... BeFree 15809750 Detail
0.021 Carcinogenesis Hypoxia-inducible factor-1 alpha (HIF-1α) P582S polymorphism has been reported t... BeFree 25337255 Detail
0.027 Malignant neoplasm of prostate The homozygous P582S mutation in the oxygen-dependent degradation domain of HIF-... BeFree 16998808 Detail
0.006 hepatitis B Two polymorphisms in the HIF-1a gene (rs11549465 and rs115494657) were examined ... BeFree 25195037 Detail
0.015 pancreatic carcinoma Our findings suggest that the HIF-1α A588T polymorphism is significantly associa... BeFree 24293391 Detail
<0.001 Malignant neoplasm of gastrointestinal tract To understand the role of HIF-1α P582S and A588T genotypes in digestive cancer d... BeFree 24293391 Detail
0.002 Diabetes Impact of the hypoxia-inducible factor-1 α (HIF1A) Pro582Ser polymorphism on dia... BeFree 22991450 Detail
0.019 prostate carcinoma The current findings suggest that HIF1A P582S polymorphism correlates with urina... BeFree 23723982 Detail
0.086 Diabetes Mellitus, Non-Insulin-Dependent This is the first report that HIF-1alpha is associated with the occurrence of ty... BeFree 16046581 Detail
0.004 Malignant tumor of cervix Genetic association between the HIF-1α P582S polymorphism and cervical cancer ri... BeFree 25337255 Detail
0.081 Diabetic Nephropathy The current study demonstrates for the first time that HIF1A Pro582Ser polymorph... BeFree 22991450 Detail
<0.001 Cancer of Digestive System HIF-1α P582S and A588T polymorphisms and digestive system cancer risk-a meta-ana... BeFree 24293391 Detail
<0.001 androgen independent prostate cancer However, we found that, among men with the homozygous CC wild-type (but not CT/T... BeFree 17624927 Detail
0.022 Tumor Progression Hypoxia-inducible factor-1 (HIF-1) influences cancer progression and metastasis ... BeFree 24293391 Detail
0.002 anemia These findings show for the first time that the HIF-1α(Pro-582-Ser) polymorphism... BeFree 24120591 Detail
0.019 prostate carcinoma The homozygous P582S mutation in the oxygen-dependent degradation domain of HIF-... BeFree 16998808 Detail
0.001 Iron deficiency Moreover, the HIF-1α(Pro-582-Ser) polymorphism protected regular blood donors fr... BeFree 24120591 Detail
0.027 Malignant neoplasm of prostate The current findings suggest that HIF1A P582S polymorphism correlates with urina... BeFree 23723982 Detail
<0.001 breast adenocarcinoma We aimed to study the prevalence of Hypoxia inducible factor-1α (HIF-1α) P582S a... BeFree 23749907 Detail
0.037 renal cell carcinoma In previous studies, the C1772T (P582S) or the G1790A (A588T) polymorphisms of t... BeFree 18949419 Detail
<0.001 Infant, Small for Gestational Age HIF1α rs11549465 dominant model and T allele were reduced in women who developed... BeFree 24819156 Detail
0.001 Kidney Diseases Impact of the hypoxia-inducible factor-1 α (HIF1A) Pro582Ser polymorphism on dia... BeFree 22991450 Detail
0.001 androgen independent prostate cancer The two HIF-1alpha gene polymorphisms were not directly associated with CaP, but... BeFree 17624927 Detail
0.002 diabetes mellitus Impact of the hypoxia-inducible factor-1 α (HIF1A) Pro582Ser polymorphism on dia... BeFree 22991450 Detail
0.027 Malignant neoplasm of prostate In previous studies, the C1772T (P582S) or the G1790A (A588T) polymorphisms of t... BeFree 18949419 Detail
0.005 cervix carcinoma Genetic association between the HIF-1α P582S polymorphism and cervical cancer ri... BeFree 25337255 Detail
0.051 Neoplasm Metastasis Hypoxia-inducible factor-1 (HIF-1) influences cancer progression and metastasis ... BeFree 24293391 Detail
0.002 Coronary Arteriosclerosis The findings indicate not any significant association between collateral formati... BeFree 21945026 Detail
0.131 age related macular degeneration Genotype distribution of rs1061170 (CFH), rs429608 (SKIV2L), rs2679798 (MYRIP) a... BeFree 24995509 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001530.4(HIF1A):c.1744C>T (p.Pro582Ser) AND Cholangiocarcinoma ClinVar Detail
NM_001530.4(HIF1A):c.1744C>T (p.Pro582Ser) AND not provided ClinVar Detail
We assessed the difference in transcription activity of two HIF-1alpha polymorphic variants (P582S a... DisGeNET Detail
Our findings suggest that the HIF-1α A588T polymorphism is significantly associated with higher canc... DisGeNET Detail
However, it suggests that the therapeutic and prognostic implication of somatic VHL alteration may b... DisGeNET Detail
Hypoxia-inducible factor-1 alpha (HIF-1α) P582S polymorphism has been reported to increase transacti... DisGeNET Detail
The homozygous P582S mutation in the oxygen-dependent degradation domain of HIF-1 alpha is associate... DisGeNET Detail
Two polymorphisms in the HIF-1a gene (rs11549465 and rs115494657) were examined in 157 hepatitis B v... DisGeNET Detail
Our findings suggest that the HIF-1α A588T polymorphism is significantly associated with higher canc... DisGeNET Detail
To understand the role of HIF-1α P582S and A588T genotypes in digestive cancer development, we condu... DisGeNET Detail
Impact of the hypoxia-inducible factor-1 α (HIF1A) Pro582Ser polymorphism on diabetes nephropathy. DisGeNET Detail
The current findings suggest that HIF1A P582S polymorphism correlates with urinary cancers risk in C... DisGeNET Detail
This is the first report that HIF-1alpha is associated with the occurrence of type 2 diabetes and su... DisGeNET Detail
Genetic association between the HIF-1α P582S polymorphism and cervical cancer risk: a meta analysis. DisGeNET Detail
The current study demonstrates for the first time that HIF1A Pro582Ser polymorphism has an effect on... DisGeNET Detail
HIF-1α P582S and A588T polymorphisms and digestive system cancer risk-a meta-analysis. DisGeNET Detail
However, we found that, among men with the homozygous CC wild-type (but not CT/TT) of the HIF-1alpha... DisGeNET Detail
Hypoxia-inducible factor-1 (HIF-1) influences cancer progression and metastasis through various mech... DisGeNET Detail
These findings show for the first time that the HIF-1α(Pro-582-Ser) polymorphism significantly affec... DisGeNET Detail
The homozygous P582S mutation in the oxygen-dependent degradation domain of HIF-1 alpha is associate... DisGeNET Detail
Moreover, the HIF-1α(Pro-582-Ser) polymorphism protected regular blood donors from developing iron d... DisGeNET Detail
The current findings suggest that HIF1A P582S polymorphism correlates with urinary cancers risk in C... DisGeNET Detail
We aimed to study the prevalence of Hypoxia inducible factor-1α (HIF-1α) P582S and A588T polymorphis... DisGeNET Detail
In previous studies, the C1772T (P582S) or the G1790A (A588T) polymorphisms of the HIF-1alpha gene h... DisGeNET Detail
HIF1α rs11549465 dominant model and T allele were reduced in women who developed EPE compared to con... DisGeNET Detail
Impact of the hypoxia-inducible factor-1 α (HIF1A) Pro582Ser polymorphism on diabetes nephropathy. DisGeNET Detail
The two HIF-1alpha gene polymorphisms were not directly associated with CaP, but the interaction bet... DisGeNET Detail
Impact of the hypoxia-inducible factor-1 α (HIF1A) Pro582Ser polymorphism on diabetes nephropathy. DisGeNET Detail
In previous studies, the C1772T (P582S) or the G1790A (A588T) polymorphisms of the HIF-1alpha gene h... DisGeNET Detail
Genetic association between the HIF-1α P582S polymorphism and cervical cancer risk: a meta analysis. DisGeNET Detail
Hypoxia-inducible factor-1 (HIF-1) influences cancer progression and metastasis through various mech... DisGeNET Detail
The findings indicate not any significant association between collateral formation and polymorphic v... DisGeNET Detail
Genotype distribution of rs1061170 (CFH), rs429608 (SKIV2L), rs2679798 (MYRIP) and both rs11549465 a... 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
-
Genome
hg19
Position
chr14:62,207,557-62,207,557
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
179.32
Standard deviation of sample read depth (HGVD)
77.14
Number of reference allele (HGVD)
2293
Number of alternative allele (HGVD)
127
Allele Frequency (HGVD)
0.052479338842975204
Gene Symbol (HGVD)
HIF1A
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))
rs11549465
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0538
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
901
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
378
East Asian Heterozygous Counts (ExAC)
362
East Asian Homozygous Counts (ExAC)
8
East Asian Allele Frequency (ExAC)
0.04367922348047146
Chromosome Counts in All Race (ExAC)
121398
Allele Counts in All Race (ExAC)
10884
Heterozygous Counts in All Race (ExAC)
9764
Homozygous Counts in All Race (ExAC)
560
Allele Frequency in All Race (ExAC)
0.08965551327039985
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