chr13:48459708:C>T Detail (hg38) (RB1)

Information

Genome

Assembly Position
hg19 chr13:49,033,844-49,033,844 View the variant detail on this assembly version.
hg38 chr13:48,459,708-48,459,708

HGVS

Type Transcript Protein
RefSeq NM_000321.2:c.1981C>T NP_000312.2:p.Arg661Trp
Ensemble ENST00000267163.6:c.1981C>T ENST00000267163.6:p.Arg661Trp
ENST00000650461.1:c.1981C>T ENST00000650461.1:p.Arg661Trp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

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 tgv383524086 TogoVar
COSMIC COSM861 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-05-20 criteria provided, multiple submitters, no conflicts retinoblastoma germline unknown Detail
Pathogenic 2022-07-21 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic no assertion criteria provided Vulvar adenocarcinoma of mammary gland type somatic Detail
Pathogenic 2018-10-31 criteria provided, single submitter Small cell lung carcinoma,Malignant tumor of urinary bladder,retinoblastoma,bone osteosarcoma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Small cell lung carcinoma,Malignant tumor of urinary bladder,retinoblastoma,bone osteosarcoma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Small cell lung carcinoma,Malignant tumor of urinary bladder,retinoblastoma,bone osteosarcoma unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Small cell lung carcinoma,Malignant tumor of urinary bladder,retinoblastoma,bone osteosarcoma unknown Detail
Pathogenic 2023-01-23 criteria provided, multiple submitters, no conflicts not provided 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.1981C>T (p.Arg661Trp) AND Retinoblastoma ClinVar Detail
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) AND Vulvar adenocarcinoma of mammary gland type ClinVar Detail
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) AND multiple conditions ClinVar Detail
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) AND multiple conditions ClinVar Detail
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) AND multiple conditions ClinVar Detail
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) AND multiple conditions ClinVar Detail
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp) AND not provided 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
rs137853294 dbSNP
Genome
hg38
Position
chr13:48,459,708-48,459,708
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8644
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120942
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.268426187759421E-6
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