chr16:89803957:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr16:89,803,957-89,883,066
hg38 chr16:89,737,549-89,816,658 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 squamous cell carcinoma Patients with the other genotypes (FANCA through FANCQ) have cumulative risks of... BeFree,LHGDN 25455269 Detail
<0.001 Malignant tumor of cervix NA BeFree Detail
<0.001 colorectal carcinoma NA BeFree Detail
0.120 adenoid cystic carcinoma NA CTD_human Detail
0.392 Fanconi anemia Here, we derive integration free-induced pluripotent stem cells (iPSCs) from an ... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET 24999918 Detail
0.392 Fanconi anemia Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanom... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET 25243787 Detail
0.392 Fanconi anemia A common ancestral haplotype is strongly suggested in the Korean and Japanese pa... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET 25703136 Detail
0.392 Fanconi anemia To address this issue, we established induced pluripotent stem cells (iPSCs) fro... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET 25762002 Detail
0.392 Fanconi anemia In addition to the case report, the main focus of this manuscript was to review ... BeFree,CLINVAR,CTD_human,GAD,LHGDN,ORPHANET 25953249 Detail
0.120 Freckles NA GWASCAT Detail
<0.001 Hematological Disease NA BeFree Detail
0.004 Leukemia, Myelocytic, Acute Patients with the other genotypes (FANCA through FANCQ) have cumulative risks of... BeFree,LHGDN 25455269 Detail
<0.001 myeloid leukemia NA BeFree Detail
<0.001 liver cirrhosis NA BeFree Detail
<0.001 Liver diseases NA BeFree Detail
0.002 Chronic Obstructive Airway Disease NA GAD Detail
<0.001 melanoma Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanom... BeFree 25243787 Detail
<0.001 Metabolic Diseases NA BeFree Detail
<0.001 Nodule NA BeFree Detail
<0.001 ovarian carcinoma NA BeFree Detail
0.003 Pancreatic Neoplasm NA LHGDN Detail
0.120 Salivary Gland Neoplasms NA CTD_human Detail
0.120 vitiligo NA GWASCAT Detail
<0.001 Adult Acute Myeloblastic Leukemia NA BeFree Detail
0.002 Malignant neoplasm of lung NA GAD Detail
<0.001 Tyrosinemias NA BeFree Detail
0.002 Tyrosinemia, Type I Functional analysis and in vitro correction of splicing FAH mutations causing ty... BeFree 23895425 Detail
0.002 Tyrosinemia, Type I Identification of a combined missense/splice-site mutation in FAH causing tyrosi... BeFree 24756054 Detail
0.002 Tyrosinemia, Type I Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I. BeFree 25117105 Detail
<0.001 Streptococcal lymphadenitis of swine NA BeFree Detail
<0.001 Solid tumour Patients with the other genotypes (FANCA through FANCQ) have cumulative risks of... BeFree 25455269 Detail
<0.001 cervix carcinoma NA BeFree Detail
<0.001 Carcinogenesis NA BeFree Detail
<0.001 Leukemogenesis NA BeFree Detail
0.003 Epithelial ovarian cancer We found evidence of associations with EOC risk for variants at FANCA, EXO1, E2F... BeFree,GAD 26424751 Detail
0.001 breast carcinoma NA BeFree Detail
<0.001 Carcinoma of bladder NA BeFree Detail
0.002 Carcinoma in situ of uterine cervix NA GAD Detail
0.003 ovarian neoplasm NA LHGDN Detail
0.003 Malignant neoplasm of ovary NA BeFree,GAD Detail
<0.001 colorectal cancer NA BeFree Detail
<0.001 Cirrhosis NA BeFree Detail
0.002 caffeine stimulant related disorder NA GAD Detail
0.340 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanom... BeFree,CLINVAR,MGD,UNIPROT 25243787 Detail
0.340 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) A common ancestral haplotype is strongly suggested in the Korean and Japanese pa... BeFree,CLINVAR,MGD,UNIPROT 25703136 Detail
0.340 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) To address this issue, we established induced pluripotent stem cells (iPSCs) fro... BeFree,CLINVAR,MGD,UNIPROT 25762002 Detail
0.340 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) In addition to the case report, the main focus of this manuscript was to review ... BeFree,CLINVAR,MGD,UNIPROT 25953249 Detail
<0.001 Triple Negative Breast Neoplasms NA BeFree Detail
<0.001 Congenital Abnormality NA BeFree Detail
0.005 Malignant neoplasm of urinary bladder NA BeFree,GAD Detail
0.120 Bladder Neoplasm NA CTD_human Detail
0.013 Malignant neoplasm of breast NA BeFree,GAD Detail
Annotation

Annotations

DescrptionSourceLinks
Patients with the other genotypes (FANCA through FANCQ) have cumulative risks of more than 50% of ma... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Here, we derive integration free-induced pluripotent stem cells (iPSCs) from an FA patient without g... DisGeNET Detail
Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival. DisGeNET Detail
A common ancestral haplotype is strongly suggested in the Korean and Japanese patients with Fanconi ... DisGeNET Detail
To address this issue, we established induced pluripotent stem cells (iPSCs) from fibroblasts of six... DisGeNET Detail
In addition to the case report, the main focus of this manuscript was to review literature on role o... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Patients with the other genotypes (FANCA through FANCQ) have cumulative risks of more than 50% of ma... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I. DisGeNET Detail
Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1. DisGeNET Detail
Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I. DisGeNET Detail
NA DisGeNET Detail
Patients with the other genotypes (FANCA through FANCQ) have cumulative risks of more than 50% of ma... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
We found evidence of associations with EOC risk for variants at FANCA, EXO1, E2F4, E2F2, CREB5 and C... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival. DisGeNET Detail
A common ancestral haplotype is strongly suggested in the Korean and Japanese patients with Fanconi ... DisGeNET Detail
To address this issue, we established induced pluripotent stem cells (iPSCs) from fibroblasts of six... DisGeNET Detail
In addition to the case report, the main focus of this manuscript was to review literature on role o... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA 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
chr16:89,803,957-89,883,066
Variant Type
snv
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