chr13:48303775:> Detail (hg38) (RB1)

Information

Genome

Assembly Position
hg19 chr13:48,877,911-49,056,122 
hg38 chr13:48,303,775-48,481,986

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
breast cancer Palbociclib D Predictive Supports Resistance Somatic 3 20473330 Detail
glioblastoma Palbociclib D Predictive Supports Resistance Somatic 3 20354191 Detail
lung small cell carcinoma Chemotherapy B Predictive Supports Sensitivity/Response Somatic 2 26802149 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In 3 ER positive and 2 ER negative breast cancer cell lines with intact Rb, significant growth inhib... CIViC Evidence Detail
A panel of 21 glioblastoma cell lines harboring various mutations was treated with palbociclib. 16 o... CIViC Evidence Detail
Study evaluated a total of 50 small cell lung cancer patients with extensive stage disease. Multivar... CIViC Evidence 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
chr13:48,303,775-48,481,986
Variant Type
snv
Variant (CIViC) (CIViC Variant)
LOSS-OF-FUNCTION
Transcript 1 (CIViC Variant)
ENST00000267163.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/606
Variant (CIViC) (CIViC Variant)
MUTATION
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/799
Genome browser