chr18:51065548:C>A Detail (hg38) (SMAD4)

Information

Genome

Assembly Position
hg19 chr18:48,591,918-48,591,918 View the variant detail on this assembly version.
hg38 chr18:51,065,548-51,065,548

HGVS

Type Transcript Protein
RefSeq NM_005359.5:c.1081C>A NP_005350.1:p.Arg361Ser
Ensemble ENST00000342988.8:c.1081C>A ENST00000342988.8:p.Arg361Ser
ENST00000398417.6:c.1081C>A ENST00000398417.6:p.Arg361Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 600993 OMIM
HGNC 6770 HGNC
Ensembl ENSG00000141646 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM14151 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-10-02 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Likely pathogenic 2021-11-17 criteria provided, single submitter juvenile polyposis syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.588 juvenile polyposis syndrome NA CLINVAR Detail
0.361 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) NA CLINVAR Detail
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.588 juvenile polyposis syndrome Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account fo... UNIPROT 9811934 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005359.6(SMAD4):c.1081C>A (p.Arg361Ser) AND Neoplasm of the large intestine ClinVar Detail
NM_005359.6(SMAD4):c.1081C>A (p.Arg361Ser) AND Juvenile polyposis syndrome ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of case... 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
rs80338963 dbSNP
Genome
hg38
Position
chr18:51,065,548-51,065,548
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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