chr18:48604678:A>G Detail (hg19) (SMAD4)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr18:48,604,678-48,604,678
hg38	chr18:51,078,308-51,078,308 View the variant detail on this assembly version.

HGVS

SMAD4

Type	Transcript	Protein
RefSeq	NM_005359.5:c.1500A>G	NP_005350.1:p.Ile500Met
Ensemble	ENST00000342988.8:c.1500A>G	ENST00000342988.8:p.Ile500Met
	ENST00000398417.6:c.1500A>G	ENST00000398417.6:p.Ile500Met
	ENST00000588745.5:c.1212A>G	ENST00000588745.5:p.Ile404Met
	ENST00000588860.6:c.1500A>G	ENST00000588860.6:p.Ile500Met
	ENST00000589076.6:c.1500A>G	ENST00000589076.6:p.Ile500Met
	ENST00000589941.2:c.1500A>G	ENST00000589941.2:p.Ile500Met
	ENST00000590061.2:c.1500A>G	ENST00000590061.2:p.Ile500Met
	ENST00000593223.2:c.*1497A>G
	ENST00000714261.1:c.1539A>G	ENST00000714261.1:p.Ile513Met
	ENST00000714264.1:c.1581A>G	ENST00000714264.1:p.Ile527Met
	ENST00000714266.1:c.1287A>G	ENST00000714266.1:p.Ile429Met
	ENST00000714268.1:c.1470A>G	ENST00000714268.1:p.Ile490Met
	ENST00000714269.1:c.1272A>G	ENST00000714269.1:p.Ile424Met
	ENST00000714270.1:c.1578A>G	ENST00000714270.1:p.Ile526Met
	ENST00000714272.1:c.1476A>G	ENST00000714272.1:p.Ile492Met

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

SMAD4

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	2011-12-11	no assertion criteria provided	Myhre syndrome	de novo germline	Detail
not provided		no assertion provided	not provided	not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.482	Growth mental deficiency syndrome of Myhre	NA	CLINVAR		Detail
0.482	Growth mental deficiency syndrome of Myhre	Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndro...	UNIPROT	22158539	Detail

Annotation

Annotations

Descrption	Source	Links
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met) AND Myhre syndrome	ClinVar	Detail
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.	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: rs281875320 dbSNP
Genome: hg19
Position: chr18:48,604,678-48,604,678
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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