chr1:209961970:C>G Detail (hg19) (IRF6)

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

Genome

Assembly	Position
hg19	chr1:209,961,970-209,961,970
hg38	chr1:209,788,625-209,788,625 View the variant detail on this assembly version.

HGVS

IRF6

Type	Transcript	Protein
RefSeq	NM_006147.3:c.1199G>C	NP_006138.1:p.Arg400Pro
	NM_001206696.1:c.914G>C	NP_001193625.1:p.Arg305Pro
Ensemble	ENST00000367021.8:c.1199G>C	ENST00000367021.8:p.Arg400Pro
	ENST00000542854.5:c.914G>C	ENST00000542854.5:p.Arg305Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:0.003
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:0.165

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

IRF6

Type	Database	ID	Link
Gene	MIM	607199	OMIM
	HGNC	6121	HGNC
	Ensembl	ENSG00000117595	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv4642183	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
0.575	Van der Woude syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
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: -
Genome: hg19
Position: chr1:209,961,970-209,961,970
Variant Type: snv
Reference Allele: C
Alternative Allele: G
Filtering Status (HGVD): LowQual
Filtering Status (HGVD): VQSRTrancheSNP99.00to99.90
# of samples (HGVD): 1149
Mean of sample read depth (HGVD): 79.12
Standard deviation of sample read depth (HGVD): 37.19
Number of reference allele (HGVD): 2291
Number of alternative allele (HGVD): 7
Allele Frequency (HGVD): 0.0030461270670147957
Gene Symbol (HGVD): IRF6
East Asian Chromosome Counts (ExAC): 3528
East Asian Allele Counts (ExAC): 582
East Asian Heterozygous Counts (ExAC): 582
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.1649659863945578
Chromosome Counts in All Race (ExAC): 65540
Allele Counts in All Race (ExAC): 4663
Heterozygous Counts in All Race (ExAC): 4663
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 0.07114739090631675

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