chr18:48593442:G>A Detail (hg19) (SMAD4)

Information

Genome

Assembly Position
hg19 chr18:48,593,442-48,593,442
hg38 chr18:51,067,072-51,067,072 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005359.5:c.1193G>A NP_005350.1:p.Trp398Ter
Ensemble ENST00000588745.5:c.905G>A ENST00000588745.5:p.Trp302Ter
ENST00000593223.2:c.1193G>A ENST00000593223.2:p.Trp398Ter
Summary

MGeND

Clinical significance not provided
Variant entry 4
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 600993 OMIM
HGNC 6770 HGNC
Ensembl ENSG00000141646 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM5742575 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided caecum not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided malignant neoplasm of rectum not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided body of pancreas not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
not provided ill-defined sites within the digestive system not provided MGS000040
(TMGS000095)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-07-31 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
Annotation

Annotations

DescrptionSourceLinks
NM_005359.6(SMAD4):c.1193G>A (p.Trp398Ter) AND Juvenile polyposis 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
rs377767357 dbSNP
Genome
hg19
Position
chr18:48,593,442-48,593,442
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser