NM_000074.3(CD40LG):c.601T>C (p.Phe201Leu)Rat Genome Database

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Variant : CV758305 (NM_000074.3(CD40LG):c.601T>C (p.Phe201Leu)) Homo sapiens

Symbol: CV758305
Name: NM_000074.3(CD40LG):c.601T>C (p.Phe201Leu)
RGD ID: 15138772
Condition: Hyper-IgM syndrome type 1 [RCV000921393]
Clinical Significance: benign
Last Evaluated: 10/03/2018
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_000074.3:c.601T>C
NG_007280.1:g.16054T>C
NC_000023.11:g.136659230T>C
NC_000023.10:g.135741389T>C
NM_000074.2:c.601T>C
NP_000065.1:p.Phe201Leu
LRG_141:g.16054T>C
LRG_141t1:c.601T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,659,230 - 136,659,230CLINVAR
GRCh37X135,741,389 - 135,741,389CLINVAR
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 RCV000921393 CLINVAR
dbSNP (RS) rs144827029 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR