chr16:23614846:C> 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	chr16:23,614,846-23,614,846
hg38	chr16:23,603,525-23,603,525

HGVS

PALB2

Type	Transcript	Protein
RefSeq	NM_024675.3:c.3495delG	NP_078951.2:p.Gly1166ValfsTer25
Ensemble	ENST00000566069.6:c.*130delG
	ENST00000261584.9:c.3495delG	ENST00000261584.9:p.Gly1166ValfsTer25
	ENST00000697379.2:c.3501delG	ENST00000697379.2:p.Gly1168ValfsTer25
	ENST00000697383.1:c.1029delG	ENST00000697383.1:p.Gly344ValfsTer25
	ENST00000561514.3:c.3501delG	ENST00000561514.3:p.Gly1168ValfsTer25
	ENST00000697376.1:c.*130delG
	ENST00000568219.5:c.2610delG	ENST00000568219.5:p.Gly871ValfsTer25
	ENST00000697377.2:c.3339delG	ENST00000697377.2:p.Gly1114ValfsTer25
	ENST00000697374.1:c.2610delG	ENST00000697374.1:p.Gly871ValfsTer25
	ENST00000713774.1:c.3258delG	ENST00000713774.1:p.Gly1087ValfsTer25

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2019-05-13	no assertion criteria provided	not provided	germline	Detail
Pathogenic	2021-10-18	criteria provided, single submitter	Hereditary cancer-predisposing syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.127	Breast Cancer, Familial	NA	CLINVAR		Detail
0.120	Pancreatic cancer, susceptibility to, 3	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_024675.4(PALB2):c.3497del (p.Gly1166fs) AND not provided	ClinVar	Detail
NM_024675.4(PALB2):c.3497del (p.Gly1166fs) AND Hereditary cancer-predisposing syndrome	ClinVar	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: -
dbSNP: rs180177138 dbSNP
Genome: hg19
Position: chr16:23,614,846-23,614,846
Variant Type: snv
Reference Allele: C
Alternative Allele: -

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