chr2:136872471:C>A Detail (hg19) (CXCR4)

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

Genome

Assembly	Position
hg19	chr2:136,872,471-136,872,471
hg38	chr2:136,114,901-136,114,901 View the variant detail on this assembly version.

HGVS

CXCR4

Type	Transcript	Protein
RefSeq	NM_003467.2:c.1027G>T	NP_003458.1:p.Glu343Ter
	NM_001008540.1:c.1039G>T	NP_001008540.1:p.Glu347Ter
Ensemble	ENST00000241393.4:c.1027G>T	ENST00000241393.4:p.Glu343Ter
	ENST00000409817.1:c.1039G>T	ENST00000409817.1:p.Glu347Ter
	ENST00000466288.1:c.982G>T	ENST00000466288.1:p.Glu328Ter
	ENST00000696136.1:c.1015G>T	ENST00000696136.1:p.Glu339Ter
	ENST00000696137.1:c.982G>T	ENST00000696137.1:p.Glu328Ter
	ENST00000696152.1:c.982G>T	ENST00000696152.1:p.Glu328Ter
	ENST00000696228.1:c.1015G>T	ENST00000696228.1:p.Glu339Ter

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

CXCR4

Type	Database	ID	Link
Gene	MIM	162643	OMIM
	HGNC	2561	HGNC
	Ensembl	ENSG00000121966	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	2003-05-01	no assertion criteria provided	WHIM syndrome 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.450	WHIM syndrome	Accordingly, like CXCR4(R334X), the most common truncation mutation in WHIM synd...	BeFree	22596258	Detail
0.450	WHIM syndrome	NA	CLINVAR		Detail
0.002	WHIM syndrome	WHIM syndrome-associated CXCR4 truncation mutants lacking the S346/347 phosphosi...	BeFree	23734232	Detail

Annotation

Annotations

Descrption	Source	Links
NM_003467.3(CXCR4):c.1027G>T (p.Glu343Ter) AND WHIM syndrome 1	ClinVar	Detail
Accordingly, like CXCR4(R334X), the most common truncation mutation in WHIM syndrome, CXCR4(E343K) m...	DisGeNET	Detail
NA	DisGeNET	Detail
WHIM syndrome-associated CXCR4 truncation mutants lacking the S346/347 phosphosite and the recently ...	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: rs104893625 dbSNP
Genome: hg19
Position: chr2:136,872,471-136,872,471
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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