NM_000074.2(CD40LG):c.379A>G (p.Ile127Val)Rat Genome Database

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Variant : CV624712 (NM_000074.2(CD40LG):c.379A>G (p.Ile127Val)) Homo sapiens

Symbol: CV624712
Name: NM_000074.2(CD40LG):c.379A>G (p.Ile127Val)
RGD ID: 14699434
Condition: Hyper-IgM syndrome type 1 [RCV000796869]|not provided [RCV000788794]
Clinical Significance: uncertain significance
Last Evaluated: 11/06/2018
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_000074.2:c.379A>G
LRG_141t1:c.379A>G
NG_007280.1:g.13212A>G
NC_000023.11:g.136656388A>G
NC_000023.10:g.135738547A>G
NP_000065.1:p.Ile127Val
LRG_141:g.13212A>G
LRG_141p1:p.Ile127Val
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,656,388 - 136,656,388CLINVAR
GRCh37X135,738,547 - 135,738,547CLINVAR
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 RCV000788794 CLINVAR
  RCV000796869 CLINVAR
dbSNP (RS) rs1052924444 CLINVAR
MedGen C0398689 CLINVAR
  CN517202 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR