chr11:36592860:C>T Detail (hg38) (RAG2)

Information

Genome

Assembly Position
hg19 chr11:36,614,410-36,614,410 View the variant detail on this assembly version.
hg38 chr11:36,592,860-36,592,860

HGVS

Type Transcript Protein
RefSeq NM_000536.3:c.1309G>A NP_000527.2:p.Glu437Lys
Ensemble ENST00000311485.8:c.1309G>A ENST00000311485.8:p.Glu437Lys
ENST00000527033.6:c.1309G>A ENST00000527033.6:p.Glu437Lys
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 Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 179616 OMIM
HGNC 9832 HGNC
Ensembl ENSG00000175097 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
Uncertain significance 2018-05-10 criteria provided, single submitter not specified germline Detail
Likely pathogenic 2015-12-21 criteria provided, single submitter not provided germline Detail
Uncertain significance 2018-03-06 criteria provided, single submitter Inborn error of immunity,Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency,recombinase activating gene 2 deficiency germline Detail
Uncertain significance 2018-03-06 criteria provided, single submitter Inborn error of immunity,Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency,recombinase activating gene 2 deficiency germline Detail
Uncertain significance 2018-03-06 criteria provided, single submitter Inborn error of immunity,Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency,recombinase activating gene 2 deficiency germline Detail
Likely pathogenic 2023-02-21 criteria provided, single submitter Combined immunodeficiency with skin granulomas unknown Detail
Likely pathogenic 2024-04-01 reviewed by expert panel recombinase activating gene 2 deficiency germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.139 severe combined immunodeficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) AND not specified ClinVar Detail
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) AND not provided ClinVar Detail
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) AND multiple conditions ClinVar Detail
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) AND multiple conditions ClinVar Detail
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) AND multiple conditions ClinVar Detail
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) AND Combined immunodeficiency with skin granulomas ClinVar Detail
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) AND Recombinase activating gene 2 deficiency 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
rs193922573 dbSNP
Genome
hg38
Position
chr11:36,592,860-36,592,860
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8648
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)
121400
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6474464579901152E-5
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