chr16:23647111:AG> Detail (hg19) (PALB2)

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

Genome

Assembly	Position
hg19	chr16:23,647,111-23,647,112
hg38	chr16:23,635,790-23,635,791

HGVS

PALB2

Type	Transcript	Protein
RefSeq	NM_024675.3:c.755_756delCT	NP_078951.2:p.Leu253IlefsTer3
Ensemble	ENST00000697374.1:c.-130_-131delCT
	ENST00000697377.2:c.761_762delCT	ENST00000697377.2:p.Leu255IlefsTer3
	ENST00000713774.1:c.755_756delCT	ENST00000713774.1:p.Leu253IlefsTer3
	ENST00000568219.5:c.-130_-131delCT
	ENST00000261584.9:c.755_756delCT	ENST00000261584.9:p.Leu253IlefsTer3
	ENST00000697379.2:c.761_762delCT	ENST00000697379.2:p.Leu255IlefsTer3
	ENST00000697383.1:c.48+5319_48+5320delCT
	ENST00000561514.3:c.761_762delCT	ENST00000561514.3:p.Leu255IlefsTer3
	ENST00000697376.1:c.-130_-131delCT
	ENST00000566069.6:c.755_756delCT	ENST00000566069.6:p.Leu253IlefsTer3

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

PALB2

Type	Database	ID	Link
Gene	MIM	610355	OMIM
	HGNC	26144	HGNC
	Ensembl	ENSG00000083093	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
0.240	FANCONI ANEMIA, COMPLEMENTATION GROUP N	NA	CLINVAR		Detail
0.120	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail
0.127	Breast Cancer, Familial	NA	CLINVAR		Detail
0.120	Pancreatic cancer, susceptibility to, 3	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	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: -
Genome: hg19
Position: chr16:23,647,111-23,647,112
Variant Type: snv
Reference Allele: AG
Alternative Allele: -
East Asian Chromosome Counts (ExAC): 8654
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): 121324
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.242392271933006E-6

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