NM_000074.2(CD40LG):c.38C>T (p.Ala13Val)Rat Genome Database

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Variant : CV271617 (NM_000074.2(CD40LG):c.38C>T (p.Ala13Val)) Homo sapiens

Symbol: CV271617
Name: NM_000074.2(CD40LG):c.38C>T (p.Ala13Val)
RGD ID: 11640489
Condition: Hyper-IgM syndrome type 1 [RCV001089061]|not provided [RCV000726000]|not specified [RCV000339805]
Clinical Significance: benign|conflicting interpretations of pathogenicity|uncertain significance
Last Evaluated: 12/31/2019
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|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.38C>T
NM_000074.2:c.38C>T
LRG_141:g.5110C>T
NG_007280.1:g.5110C>T
NC_000023.11:g.136648286C>T
NC_000023.10:g.135730445C>T
LRG_141p1:p.Ala13Val
NP_000065.1:p.Ala13Val
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,648,286 - 136,648,286CLINVAR
GRCh37X135,730,445 - 135,730,445CLINVAR
Cytogenetic MapXXq26.3CLINVAR
Trait Synonyms: AllHighlyPenetrant; 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 RCV000339805 CLINVAR
  RCV000726000 CLINVAR
  RCV001089061 CLINVAR
dbSNP (RS) rs368003929 CLINVAR
MedGen C0398689 CLINVAR
  CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR