NM_000074.3(CD40LG):c.369G>A (p.Ala123=)Rat Genome Database

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Variant : CV786708 (NM_000074.3(CD40LG):c.369G>A (p.Ala123=)) Homo sapiens

Symbol: CV786708
Name: NM_000074.3(CD40LG):c.369G>A (p.Ala123=)
RGD ID: 15100072
Condition: Hyper-IgM syndrome type 1 [RCV000975356]
Clinical Significance: likely benign
Last Evaluated: 10/11/2018
Review Status: criteria provided, single submitter
Related Genes: CD40LG  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_000074.3:c.369G>A
NG_007280.1:g.13202G>A
NC_000023.11:g.136656378G>A
NC_000023.10:g.135738537G>A
NM_000074.2:c.369G>A
NP_000065.1:p.Ala123=
LRG_141t1:c.369G>A
LRG_141:g.13202G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,656,378 - 136,656,378CLINVAR
GRCh37X135,738,537 - 135,738,537CLINVAR
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 RCV000975356 CLINVAR
dbSNP (RS) rs148581967 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR