NM_000074.3(CD40LG):c.433T>A (p.Tyr145Asn)Rat Genome Database

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Variant : CV999625 (NM_000074.3(CD40LG):c.433T>A (p.Tyr145Asn)) Homo sapiens

Symbol: CV999625
Name: NM_000074.3(CD40LG):c.433T>A (p.Tyr145Asn)
RGD ID: 126726024
Condition: Hyper-IgM syndrome type 1 [RCV001302763]
Clinical Significance: uncertain significance
Last Evaluated: 09/15/2020
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): NM_000074.3:c.433T>A
LRG_141:g.15886T>A
NG_007280.1:g.15886T>A
NC_000023.11:g.136659062T>A
NC_000023.10:g.135741221T>A
NP_000065.1:p.Tyr145Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,659,062 - 136,659,062CLINVAR
GRCh37X135,741,221 - 135,741,221CLINVAR
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 RCV001302763 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR