chr13:49030343:T>A Detail (hg19) (RB1)

Information

Genome

Assembly Position
hg19 chr13:49,030,343-49,030,343
hg38 chr13:48,456,207-48,456,207 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000321.2:c.1818T>A NP_000312.2:p.Tyr606Ter
Ensemble ENST00000713858.1:c.1818T>A ENST00000713858.1:p.Tyr606Ter
ENST00000713857.1:c.1818T>A ENST00000713857.1:p.Tyr606Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
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 COSM1651764 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2007-04-01 no assertion criteria provided retinoblastoma germline Detail
Pathogenic 2017-08-04 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.500 retinoblastoma NA CLINVAR Detail
0.500 retinoblastoma To describe the documented growth, clinical course, and histopathology of retino... BeFree 16631255 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000321.3(RB1):c.1818T>A (p.Tyr606Ter) AND Retinoblastoma ClinVar Detail
NM_000321.3(RB1):c.1818T>A (p.Tyr606Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NA DisGeNET Detail
To describe the documented growth, clinical course, and histopathology of retinoblastomas in an untr... 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
-
dbSNP
rs137853297 dbSNP
Genome
hg19
Position
chr13:49,030,343-49,030,343
Variant Type
snv
Reference Allele
T
Alternative Allele
A
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