chr14:62207575:G>A Detail (hg19) (HIF1A, HIF1A-AS3)

Information

Genome

Assembly Position
hg19 chr14:62,207,575-62,207,575
hg38 chr14:61,740,857-61,740,857 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001530.3:c.1762G>A NP_001521.1:p.Ala588Thr
NM_181054.2:c.1762G>A NP_851397.1:p.Ala588Thr
NM_001243084.1:c.1834G>A NP_001230013.1:p.Ala612Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.044
ToMMo:0.051
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.039

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 tgv51007966 TogoVar
COSMIC COSM3999312 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2023-09-18 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
0.015 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
0.019 prostate carcinoma The current findings suggest that HIF1A P582S polymorphism correlates with urina... BeFree 23723982 Detail
<0.001 Cancer of Digestive System HIF-1α P582S and A588T polymorphisms and digestive system cancer risk-a meta-ana... BeFree 24293391 Detail
0.022 Tumor Progression Hypoxia-inducible factor-1 (HIF-1) influences cancer progression and metastasis ... BeFree 24293391 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
0.027 Malignant neoplasm of prostate In previous studies, the C1772T (P582S) or the G1790A (A588T) polymorphisms of t... BeFree 18949419 Detail
0.051 Neoplasm Metastasis Hypoxia-inducible factor-1 (HIF-1) influences cancer progression and metastasis ... BeFree 24293391 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.1762G>A (p.Ala588Thr) 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
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
The current findings suggest that HIF1A P582S polymorphism correlates with urinary cancers risk in C... DisGeNET Detail
HIF-1α P582S and A588T polymorphisms and digestive system cancer risk-a meta-analysis. DisGeNET Detail
Hypoxia-inducible factor-1 (HIF-1) influences cancer progression and metastasis through various mech... 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
In previous studies, the C1772T (P582S) or the G1790A (A588T) polymorphisms of the HIF-1alpha gene h... DisGeNET Detail
Hypoxia-inducible factor-1 (HIF-1) influences cancer progression and metastasis through various mech... 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
chr14:62,207,575-62,207,575
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
182.24
Standard deviation of sample read depth (HGVD)
76.88
Number of reference allele (HGVD)
2314
Number of alternative allele (HGVD)
106
Allele Frequency (HGVD)
0.043801652892561986
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))
rs11549467
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0513
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
859
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
338
East Asian Heterozygous Counts (ExAC)
326
East Asian Homozygous Counts (ExAC)
6
East Asian Allele Frequency (ExAC)
0.03908418131359852
Chromosome Counts in All Race (ExAC)
121402
Allele Counts in All Race (ExAC)
1183
Heterozygous Counts in All Race (ExAC)
1165
Homozygous Counts in All Race (ExAC)
9
Allele Frequency in All Race (ExAC)
0.009744485263834203
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