chr2:214725646:> Detail (hg38) (BARD1)

Information

Genome

Assembly Position
hg19 chr2:215,590,370-215,674,407 
hg38 chr2:214,725,646-214,809,683

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
Disease Drug EL ET ED CS VO TR Pubmed Links
colorectal cancer Olaparib D Predictive Sensitivity/Response Somatic 3 27197561 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Malignant tumor of cervix NA BeFree Detail
0.002 Colorectal Neoplasms NA GAD Detail
0.002 Chronic Obstructive Airway Disease NA GAD Detail
<0.001 Neoplasm Metastasis NA BeFree Detail
0.005 ovarian carcinoma NA BeFree Detail
<0.001 Precancerous Conditions NA BeFree Detail
0.002 Tobacco use disorder NA GAD Detail
0.003 uterine cancer NA BeFree,GAD Detail
<0.001 Agenesis of corpus callosum In contrast, increased expression of the BARD1 protein, with its ubiquitin ligas... BeFree 25657202 Detail
<0.001 Tumor Progression NA BeFree Detail
<0.001 Adenocarcinoma, Clear Cell NA BeFree Detail
<0.001 Metastatic malignant neoplasm to brain NA BeFree Detail
0.003 Malignant neoplasm of lung NA BeFree,GAD Detail
0.003 cervix carcinoma NA BeFree,GAD Detail
<0.001 endometrial carcinoma NA BeFree Detail
<0.001 Carcinogenesis NA BeFree Detail
<0.001 Tumor Initiation NA BeFree Detail
0.120 Hereditary Breast and Ovarian Cancer Syndrome NA ORPHANET Detail
0.002 Epithelial ovarian cancer NA GAD Detail
0.008 breast carcinoma A significant proportion of BRCA1 tumours were positive for PARP1 (non-cleaved),... BeFree 25690937 Detail
<0.001 Carcinoma of lung NA BeFree Detail
<0.001 colon carcinoma NA BeFree Detail
0.002 Central neuroblastoma NA BeFree Detail
0.008 ovarian neoplasm NA BeFree,LHGDN Detail
0.007 Malignant neoplasm of ovary NA BeFree,GAD Detail
<0.001 Hereditary Malignant Neoplasm NA BeFree Detail
<0.001 Sporadic Breast Carcinoma NA BeFree Detail
0.131 Mammary Neoplasms NA CTD_human,LHGDN Detail
0.003 Anoxia NA LHGDN Detail
0.002 Malignant neoplasm of urinary bladder NA GAD Detail
0.114 Malignant neoplasm of breast A significant proportion of BRCA1 tumours were positive for PARP1 (non-cleaved),... BeFree,GAD,MGD 25690937 Detail
0.080 Cachexia NA RGD Detail
<0.001 Malignant tumor of colon NA BeFree Detail
<0.001 Non-small cell lung carcinoma NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
Loss of BARD1 function through the expression of a BARD1 splice variant, BARD1β, results in a more m... CIViC Evidence 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
In contrast, increased expression of the BARD1 protein, with its ubiquitin ligase function, was asso... 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
NA DisGeNET Detail
A significant proportion of BRCA1 tumours were positive for PARP1 (non-cleaved), and negative for BA... 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
NA DisGeNET Detail
A significant proportion of BRCA1 tumours were positive for PARP1 (non-cleaved), and negative for BA... 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
hg38
Position
chr2:214,725,646-214,809,683
Variant Type
snv
Variant (CIViC) (CIViC Variant)
LOSS-OF-FUNCTION
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/2219
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