chr13:48919281:C>G Detail (hg19) (RB1)

Information

Genome

Assembly Position
hg19 chr13:48,919,281-48,919,281
hg38 chr13:48,345,145-48,345,145 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000321.2:c.446C>G NP_000312.2:p.Ser149Ter
Ensemble ENST00000267163.6:c.446C>G ENST00000267163.6:p.Ser149Ter
ENST00000650461.1:c.446C>G ENST00000650461.1:p.Ser149Ter
Summary

MGeND

Clinical significance not provided
Variant entry 3
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
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-05-20 criteria provided, single submitter retinoblastoma germline Detail
Pathogenic 2017-03-27 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
Annotation

Annotations

DescrptionSourceLinks
NM_000321.3(RB1):c.446C>G (p.Ser149Ter) AND Retinoblastoma ClinVar Detail
NM_000321.3(RB1):c.446C>G (p.Ser149Ter) AND Hereditary cancer-predisposing syndrome ClinVar 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
-
dbSNP
rs587778870 dbSNP
Genome
hg19
Position
chr13:48,919,281-48,919,281
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser