chr13:49033947:>A Detail (hg19) (RB1)

Information

Genome

Assembly Position
hg19 chr13:49,033,947-49,033,947
hg38 chr13:48,459,811-48,459,811 

HGVS

Type Transcript Protein
RefSeq NM_000321.2:c.2083_2084insA NP_000312.2:p.Met695AsnfsTer26
Ensemble ENST00000267163.6:c.2083_2084insA ENST00000267163.6:p.Met695AsnfsTer26
ENST00000650461.1:c.2083_2084insA ENST00000650461.1:p.Met695AsnfsTer26
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 614041 OMIM
HGNC 9884 HGNC
Ensembl ENSG00000139687 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
Disease Drug EL ET ED CS VO TR Pubmed Links
estrogen-receptor positive breast cancer Palbociclib D Predictive Supports Resistance Somatic 2 27020857 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Preclinical study in breast cancer cell lines treated with CDK4/6 inhibitor palbociclib. Palbociclib... 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
hg19
Position
chr13:49,033,947-49,033,947
Variant Type
snv
Reference Allele
-
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
M695FS*26
Transcript 1 (CIViC Variant)
ENST00000267163.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/638
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