NM_000074.2(CD40LG):c.429A>C (p.Lys143Asn)Rat Genome Database

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Variant : CV621677 (NM_000074.2(CD40LG):c.429A>C (p.Lys143Asn)) Homo sapiens

Symbol: CV621677
Name: NM_000074.2(CD40LG):c.429A>C (p.Lys143Asn)
RGD ID: 14690440
Condition: Hyper-IgM syndrome type 1 [RCV001314969]|not specified [RCV000781201]
Clinical Significance: uncertain significance
Last Evaluated: 05/11/2018
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.429A>C
NG_007280.1:g.15882A>C
NP_000065.1:p.Lys143Asn
LRG_141:g.15882A>C
NC_000023.11:g.136659058A>C
NC_000023.10:g.135741217A>C
LRG_141t1:c.429A>C
LRG_141p1:p.Lys143Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,659,058 - 136,659,058CLINVAR
GRCh37X135,741,217 - 135,741,217CLINVAR
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:9605317   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000781201 CLINVAR
  RCV001314969 CLINVAR
dbSNP (RS) rs1569377744 CLINVAR
MedGen C0398689 CLINVAR
  CN169374 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR