chr18:48603037:GA> Detail (hg19) (SMAD4)

Information

Genome

Assembly Position
hg19 chr18:48,603,037-48,603,038
hg38 chr18:51,076,667-51,076,668 

HGVS

Type Transcript Protein
RefSeq NM_005359.5:c.1338_1339delGA NP_005350.1:p.Gln446HisfsTer47
Ensemble ENST00000342988.8:c.1338_1339delGA ENST00000342988.8:p.Gln446HisfsTer47
ENST00000398417.6:c.1338_1339delGA ENST00000398417.6:p.Gln446HisfsTer47
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 600993 OMIM
HGNC 6770 HGNC
Ensembl ENSG00000141646 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-10-02 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005359.6(SMAD4):c.1338_1339del (p.Gln446fs) 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
rs730881957 dbSNP
Genome
hg19
Position
chr18:48,603,037-48,603,038
Variant Type
snv
Reference Allele
GA
Alternative Allele
-
Genome browser