chr5:87399457:A>T Detail (hg38) (CCNH)

Information

Genome

Assembly Position
hg19 chr5:86,695,274-86,695,274 View the variant detail on this assembly version.
hg38 chr5:87,399,457-87,399,457

HGVS

Type Transcript Protein
RefSeq NM_001239.3:c.809T>A NP_001230.1:p.Val270Asp
NM_001199189.1:c.587T>A NP_001186118.1:p.Val196Asp
Ensemble ENST00000256897.9:c.809T>A ENST00000256897.9:p.Val270Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 601953 OMIM
HGNC 1594 HGNC
Ensembl ENSG00000134480 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.010 chronic lymphocytic leukemia After adjustment for multiple testing, we found a strong association between CLL... BeFree 19074885 Detail
0.006 chronic lymphocytic leukemia After adjustment for multiple testing, we found a strong association between CLL... BeFree 19074885 Detail
0.003 chronic lymphocytic leukemia After adjustment for multiple testing, we found a strong association between CLL... BeFree 19074885 Detail
0.005 chronic lymphocytic leukemia After adjustment for multiple testing, we found a strong association between CLL... BeFree 19074885 Detail
0.124 chronic lymphocytic leukemia After adjustment for multiple testing, we found a strong association between CLL... BeFree 19074885 Detail
0.001 Carcinoma of bladder In classification and regression tree analysis, we observed gene-gene interactio... BeFree 17728339 Detail
0.015 Malignant neoplasm of urinary bladder In classification and regression tree analysis, we observed gene-gene interactio... BeFree 17728339 Detail
0.005 Malignant neoplasm of urinary bladder In classification and regression tree analysis, we observed gene-gene interactio... BeFree 17728339 Detail
<0.001 Carcinoma of bladder In classification and regression tree analysis, we observed gene-gene interactio... BeFree 17728339 Detail
<0.001 squamous cell carcinoma Both of CCNH-V270A C/C or C/T and XPD 751 A/A showed a significant longer surviv... BeFree 21676483 Detail
0.176 squamous cell carcinoma Both of CCNH-V270A C/C or C/T and XPD 751 A/A showed a significant longer surviv... BeFree 21676483 Detail
Annotation

Annotations

DescrptionSourceLinks
After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... DisGeNET Detail
After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... DisGeNET Detail
After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... DisGeNET Detail
After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... DisGeNET Detail
After adjustment for multiple testing, we found a strong association between CLL risk and six geneti... DisGeNET Detail
In classification and regression tree analysis, we observed gene-gene interactions among CCNH V270A,... DisGeNET Detail
In classification and regression tree analysis, we observed gene-gene interactions among CCNH V270A,... DisGeNET Detail
In classification and regression tree analysis, we observed gene-gene interactions among CCNH V270A,... DisGeNET Detail
In classification and regression tree analysis, we observed gene-gene interactions among CCNH V270A,... DisGeNET Detail
Both of CCNH-V270A C/C or C/T and XPD 751 A/A showed a significant longer survival in the squamous c... DisGeNET Detail
Both of CCNH-V270A C/C or C/T and XPD 751 A/A showed a significant longer survival in the squamous c... 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
chr5:87,399,457-87,399,457
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
946
Mean of sample read depth (HGVD)
22.86
Standard deviation of sample read depth (HGVD)
41.12
Number of reference allele (HGVD)
1743
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
5.733944954128441E-4
Gene Symbol (HGVD)
CCNH
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