chr7:99672916:T>C Detail (hg38) (CYP3A5, ZSCAN25)

Information

Genome

Assembly Position
hg19 chr7:99,270,539-99,270,539 View the variant detail on this assembly version.
hg38 chr7:99,672,916-99,672,916

HGVS

Type Transcript Protein
RefSeq NM_000777.4:c.219-237A>G
NM_001291829.1:c.219-237A>G
NM_001291830.1:c.219-237A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance association; drug response; risk factor
Review star
Show details
Links
Type Database ID Link
Gene MIM 605325 OMIM
HGNC 2638 HGNC
Ensembl ENSG00000106258 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv30280878 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2004-12-01 no assertion criteria provided Hypertension, salt-sensitive essential, susceptibility to germline Detail
association 2022-03-23 no assertion criteria provided refractory myasthenia gravis inherited Detail
drug response 2022-04-15 no assertion criteria provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.018 Hypertensive disease The CYP3A5 genotype was related with blood pressure in the general population, b... BeFree 20617557 Detail
0.003 Hypertensive disease The CYP3A5 genotype was related with blood pressure in the general population, b... BeFree 20617557 Detail
0.008 Hypertensive disease The CYP3A5 genotype was related with blood pressure in the general population, b... BeFree 20617557 Detail
0.010 Cerebrovascular accident Eight variants in five candidate genes were examined for the risk of stroke, inc... BeFree 24368493 Detail
0.115 Cerebrovascular accident Eight variants in five candidate genes were examined for the risk of stroke, inc... BeFree 24368493 Detail
0.091 Cerebrovascular accident Eight variants in five candidate genes were examined for the risk of stroke, inc... BeFree 24368493 Detail
<0.001 Colorectal cancer metastatic CYP3A5 rs776746 A&gt;G polymorphisms have a prognostic contribution toward FOLFI... BeFree 25934339 Detail
<0.001 Carcinogenesis Emerging evidences suggest that CYP3A5*3 (rs776746 A&gt;G) polymorphism may play... BeFree 23584898 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000777.5(CYP3A5):c.219-237A>G AND Hypertension, salt-sensitive essential, susceptibility to ClinVar Detail
NM_000777.5(CYP3A5):c.219-237A>G AND refractory myasthenia gravis ClinVar Detail
NM_000777.5(CYP3A5):c.219-237A>G AND Tacrolimus response ClinVar Detail
The CYP3A5 genotype was related with blood pressure in the general population, but the effect on the... DisGeNET Detail
The CYP3A5 genotype was related with blood pressure in the general population, but the effect on the... DisGeNET Detail
The CYP3A5 genotype was related with blood pressure in the general population, but the effect on the... DisGeNET Detail
Eight variants in five candidate genes were examined for the risk of stroke, including the SG13S32 (... DisGeNET Detail
Eight variants in five candidate genes were examined for the risk of stroke, including the SG13S32 (... DisGeNET Detail
Eight variants in five candidate genes were examined for the risk of stroke, including the SG13S32 (... DisGeNET Detail
CYP3A5 rs776746 A&gt;G polymorphisms have a prognostic contribution toward FOLFIRI regimen in mCRC. DisGeNET Detail
Emerging evidences suggest that CYP3A5*3 (rs776746 A&gt;G) polymorphism may play a role in the etiol... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs776746 dbSNP
Genome
hg38
Position
chr7:99,672,916-99,672,916
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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