chr16:23637890:ACAA> Detail (hg38) (PALB2)

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

Information

Genome

Assembly	Position
hg19	chr16:23,649,211-23,649,214
hg38	chr16:23,637,890-23,637,893

HGVS

PALB2

Type	Transcript	Protein
RefSeq	NM_024675.3:c.168_171delTTGT	NP_078951.2:p.Gln60ArgfsTer7
Ensemble	ENST00000261584.9:c.168_171delTTGT	ENST00000261584.9:p.Gln60ArgfsTer7
	ENST00000561514.3:c.174_177delTTGT	ENST00000561514.3:p.Gln62ArgfsTer7
	ENST00000566069.6:c.168_171delTTGT	ENST00000566069.6:p.Gln60ArgfsTer7
	ENST00000568219.5:c.-715_-718delTTGT
	ENST00000697374.1:c.-715_-718delTTGT
	ENST00000697376.1:c.-715_-718delTTGT
	ENST00000697377.2:c.174_177delTTGT	ENST00000697377.2:p.Gln62ArgfsTer7
	ENST00000697379.2:c.174_177delTTGT	ENST00000697379.2:p.Gln62ArgfsTer7
	ENST00000697383.1:c.48+3217_48+3220delTTGT
	ENST00000713774.1:c.168_171delTTGT	ENST00000713774.1:p.Gln60ArgfsTer7

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	COSM6853568	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	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

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: hg38
Position: chr16:23,637,890-23,637,893
Variant Type: snv
Reference Allele: ACAA
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): 121404
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.2947843563638756E-5

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