chr5:35873593:G>A Detail (hg38) (IL7R)

Information

Genome

Assembly Position
hg19 chr5:35,873,695-35,873,695 View the variant detail on this assembly version.
hg38 chr5:35,873,593-35,873,593

HGVS

Type Transcript Protein
RefSeq NM_002185.3:c.651G>A NP_002176.2:p.Trp217Ter
Ensemble ENST00000303115.8:c.651G>A ENST00000303115.8:p.Trp217Ter
ENST00000506850.5:c.651G>A ENST00000506850.5:p.Trp217Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 146661 OMIM
HGNC 6024 HGNC
Ensembl ENSG00000168685 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 2023-08-11 criteria provided, single submitter Immunodeficiency 104 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002185.5(IL7R):c.651G>A (p.Trp217Ter) AND Immunodeficiency 104 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
rs104893893 dbSNP
Genome
hg38
Position
chr5:35,873,593-35,873,593
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser