chr9:2086865:C>T Detail (hg19) (SMARCA2)

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

Genome

Assembly	Position
hg19	chr9:2,086,865-2,086,865
hg38	chr9:2,086,865-2,086,865 View the variant detail on this assembly version.

HGVS

SMARCA2

Type	Transcript	Protein
RefSeq	NM_003070.4:c.2563C>T	NP_003061.3:p.Arg855Ter
	NM_139045.3:c.2563C>T	NP_620614.2:p.Arg855Ter
	NM_001289396.1:c.2563C>T	NP_001276325.1:p.Arg855Ter
	NM_001289397.1:c.2563C>T	NP_001276326.1:p.Arg855Ter
Ensemble	ENST00000349721.8:c.2563C>T	ENST00000349721.8:p.Arg855Ter
	ENST00000357248.8:c.2563C>T	ENST00000357248.8:p.Arg855Ter
	ENST00000382194.6:c.2563C>T	ENST00000382194.6:p.Arg855Ter
	ENST00000382203.5:c.2563C>T	ENST00000382203.5:p.Arg855Ter
	ENST00000450198.6:c.2563C>T	ENST00000450198.6:p.Arg855Ter
	ENST00000704350.1:c.2203C>T	ENST00000704350.1:p.Arg735Ter
	ENST00000704352.1:c.1173+32142C>T
	ENST00000704353.1:c.1173+32142C>T

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
Review star	[No Data.]
Show details

Links

SMARCA2

Type	Database	ID	Link
Gene	MIM	600014	OMIM
	HGNC	11098	HGNC
	Ensembl	ENSG00000080503	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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.481	Nicolaides Baraitser syndrome	Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.	UNIPROT	22366787	Detail

Annotation

Annotations

Descrption	Source	Links
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser 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: -
Genome: hg19
Position: chr9:2,086,865-2,086,865
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8650
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): 121328
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6484241065541342E-5

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