NM_000074.2(CD40LG):c.440C>A (p.Thr147Asn)Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant : CV378901 (NM_000074.2(CD40LG):c.440C>A (p.Thr147Asn)) Homo sapiens

Symbol: CV378901
Name: NM_000074.2(CD40LG):c.440C>A (p.Thr147Asn)
RGD ID: 12850109
Condition: Hyper-IgM syndrome type 1 [RCV000823370]|not provided [RCV000441734]
Clinical Significance: likely pathogenic|uncertain significance
Last Evaluated: 11/30/2018
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): LRG_141t1:c.440C>A
LRG_141:g.15893C>A
NG_007280.1:g.15893C>A
NC_000023.11:g.136659069C>A
NC_000023.10:g.135741228C>A
LRG_141p1:p.Thr147Asn
NP_000065.1:p.Thr147Asn
NM_000074.2:c.440C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,659,069 - 136,659,069CLINVAR
GRCh37X135,741,228 - 135,741,228CLINVAR
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:9746782   PMID:15358621   PMID:16509032   PMID:20625427   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000441734 CLINVAR
  RCV000823370 CLINVAR
dbSNP (RS) rs1057521127 CLINVAR
MedGen C0398689 CLINVAR
  CN517202 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR