chr12:31253995:C>T Detail (hg19) (DDX11)

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

Genome

Assembly	Position
hg19	chr12:31,253,995-31,253,995
hg38	chr12:31,101,061-31,101,061 View the variant detail on this assembly version.

HGVS

DDX11

Type	Transcript	Protein
RefSeq	NM_001257145.1:c.1905C>T	NP_001244074.1:p.Leu635=
	NM_004399.2:c.1983C>T	NP_004390.3:p.Leu661=
	NM_001257144.1:c.1983C>T	NP_001244073.1:p.Leu661=
	NM_030653.3:c.1983C>T	NP_085911.2:p.Leu661=
	NM_152438.1:c.1983C>T	NP_689651.1:p.Leu661=
Ensemble	ENST00000228264.10:c.1905C>T	ENST00000228264.10:p.Leu635=
	ENST00000350437.8:c.1983C>T	ENST00000350437.8:p.Leu661=
	ENST00000542838.6:c.1983C>T	ENST00000542838.6:p.Leu661=
	ENST00000545668.5:c.1983C>T	ENST00000545668.5:p.Leu661=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:0.872
	ToMMo:0.884
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:0.813

Prediction

ClinVar

Clinical Significance	Benign
Review star
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Links

DDX11

Type	Database	ID	Link
Gene	MIM	601150	OMIM
	HGNC	2736	HGNC
	Ensembl	ENSG00000013573	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv45414310	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2021-07-30	criteria provided, single submitter	Warsaw breakage syndrome	germline	Detail
Benign	2019-08-26	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_030653.4(DDX11):c.1983C>T (p.Leu661=) AND Warsaw breakage syndrome	ClinVar	Detail
NM_030653.4(DDX11):c.1983C>T (p.Leu661=) AND not provided	ClinVar	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: rs1046456 dbSNP
Genome: hg19
Position: chr12:31,253,995-31,253,995
Variant Type: snv
Reference Allele: C
Alternative Allele: T
Filtering Status (HGVD): PASS
Filtering Status (HGVD): VQSRTrancheSNP99.00to99.90
# of samples (HGVD): 1140
Mean of sample read depth (HGVD): 89.51
Standard deviation of sample read depth (HGVD): 45.64
Number of reference allele (HGVD): 291
Number of alternative allele (HGVD): 1989
Allele Frequency (HGVD): 0.8723684210526316
Gene Symbol (HGVD): DDX11
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): rs1046456
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.8836
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 14808
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16758
East Asian Chromosome Counts (ExAC): 8648
East Asian Allele Counts (ExAC): 7031
East Asian Heterozygous Counts (ExAC): 1287
East Asian Homozygous Counts (ExAC): 2872
East Asian Allele Frequency (ExAC): 0.8130203515263644
Chromosome Counts in All Race (ExAC): 121346
Allele Counts in All Race (ExAC): 63814
Heterozygous Counts in All Race (ExAC): 28034
Homozygous Counts in All Race (ExAC): 17890
Allele Frequency in All Race (ExAC): 0.5258846603925964

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