chr2:136872482:GA> Detail (hg19) (CXCR4)

Information

Genome

Assembly Position
hg19 chr2:136,872,482-136,872,483
hg38 chr2:136,114,912-136,114,913 

HGVS

Type Transcript Protein
RefSeq NM_003467.2:c.1015_1016delTC NP_003458.1:p.Ser339CysfsTer4
NM_001008540.1:c.1027_1028delTC NP_001008540.1:p.Ser343CysfsTer4
Ensemble ENST00000241393.4:c.1015_1016delTC ENST00000241393.4:p.Ser339CysfsTer4
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
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 COSM5982011 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2019-03-21 criteria provided, single submitter Warts, hypogammaglobulinemia, infections, and myelokathexis germline Detail
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 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003467.3(CXCR4):c.1016_1017del (p.Ser339fs) AND Warts, hypogammaglobulinemia, infections, and mye... ClinVar Detail
NM_003467.3(CXCR4):c.1016_1017del (p.Ser339fs) AND WHIM syndrome 1 ClinVar 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
rs730880320 dbSNP
Genome
hg19
Position
chr2:136,872,482-136,872,483
Variant Type
snv
Reference Allele
GA
Alternative Allele
-
Genome browser