chr11:36594065:C>G Detail (hg38) (RAG2)

Information

Genome

Assembly Position
hg19 chr11:36,615,615-36,615,615 View the variant detail on this assembly version.
hg38 chr11:36,594,065-36,594,065

HGVS

Type Transcript Protein
RefSeq NM_000536.3:c.104G>C NP_000527.2:p.Gly35Ala
Ensemble ENST00000311485.8:c.104G>C ENST00000311485.8:p.Gly35Ala
ENST00000527033.6:c.104G>C ENST00000527033.6:p.Gly35Ala
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 Conflicting classifications of pathogenicity
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 tgv274092449 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-03-03 criteria provided, single submitter Severe combined immunodeficiency disease germline Detail
Uncertain significance 2018-03-06 criteria provided, single submitter recombinase activating gene 2 deficiency,Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency,Inborn error of immunity germline Detail
Uncertain significance 2018-03-06 criteria provided, single submitter recombinase activating gene 2 deficiency,Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency,Inborn error of immunity germline Detail
Uncertain significance 2018-03-06 criteria provided, single submitter recombinase activating gene 2 deficiency,Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency,Inborn error of immunity germline Detail
Pathogenic 2024-01-11 criteria provided, single submitter Combined immunodeficiency with skin granulomas,severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive germline Detail
Pathogenic 2024-01-11 criteria provided, single submitter Combined immunodeficiency with skin granulomas,severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive germline Detail
Pathogenic 2022-12-02 criteria provided, single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive germline Detail
Pathogenic 2023-10-02 criteria provided, single submitter Combined immunodeficiency with skin granulomas unknown 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.104G>C (p.Gly35Ala) AND Severe combined immunodeficiency disease ClinVar Detail
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) AND multiple conditions ClinVar Detail
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) AND multiple conditions ClinVar Detail
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) AND multiple conditions ClinVar Detail
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) AND multiple conditions ClinVar Detail
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) AND multiple conditions ClinVar Detail
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) AND Severe combined immunodeficiency, autosomal recessive, T... ClinVar Detail
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) AND Combined immunodeficiency with skin granulomas 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
rs148508754 dbSNP
Genome
hg38
Position
chr11:36,594,065-36,594,065
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8650
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)
121288
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.244838730954422E-6
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