NM_000074.2(CD40LG):c.304_314del (p.Lys102fs)Rat Genome Database

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Variant : CV574313 (NM_000074.2(CD40LG):c.304_314del (p.Lys102fs)) Homo sapiens

Symbol: CV574313
Name: NM_000074.2(CD40LG):c.304_314del (p.Lys102fs)
RGD ID: 13805691
Condition: Hyper-IgM syndrome type 1 [RCV000685846]
Clinical Significance: pathogenic
Last Evaluated: 05/08/2018
Review Status: criteria provided, single submitter
Related Genes: CD40LG  
Variant Type: deletion (SO:0001589)
Source: CLINVAR
Molecular Consequence: frameshift variant
Evidence: clinical testing
HGVS Name(s): NC_000023.10:g.135736547_135736557del
LRG_141:g.11212_11222del
NC_000023.11:g.136654388_136654398del
NG_007280.1:g.11212_11222del
LRG_141t1:c.304_314del
NM_000074.2:c.304_314del
LRG_141p1:p.Lys102fs
NP_000065.1:p.Lys102fs
NM_000074.2:c.304_314delAAAGAGGAGAC
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,654,386 - 136,654,396CLINVAR
GRCh37X135,736,545 - 135,736,555CLINVAR
Cytogenetic MapXXq26.3CLINVAR
Trait Synonyms: Hyper IgM immunodeficiency, X-linked; Hyper-IgM Immunodeficiency Syndrome, Type 1; IMMUNODEFICIENCY 3; Immunodeficiency with hyper IgM type 1; X-linked hyper-IgM syndrome



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000685846 CLINVAR
dbSNP (RS) rs1569376925 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR