NM_000074.3(CD40LG):c.26C>T (p.Ser9Phe)Rat Genome Database

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Variant : CV849675 (NM_000074.3(CD40LG):c.26C>T (p.Ser9Phe)) Homo sapiens

Symbol: CV849675
Name: NM_000074.3(CD40LG):c.26C>T (p.Ser9Phe)
RGD ID: 26902781
Condition: Hyper-IgM syndrome type 1 [RCV001066297]
Clinical Significance: uncertain significance
Last Evaluated: 12/18/2019
Review Status: criteria provided, single submitter
Related Genes: CD40LG  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): LRG_141t1:c.26C>T
NM_000074.3:c.26C>T
LRG_141:g.5098C>T
NG_007280.1:g.5098C>T
NC_000023.11:g.136648274C>T
NC_000023.10:g.135730433C>T
NM_000074.2:c.26C>T
NP_000065.1:p.Ser9Phe
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,648,274 - 136,648,274CLINVAR
GRCh37X135,730,433 - 135,730,433CLINVAR
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 RCV001066297 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR