NM_000074.3(CD40LG):c.340C>T (p.Gln114Ter)Rat Genome Database

Send us a Message



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

Variant : CV972613 (NM_000074.3(CD40LG):c.340C>T (p.Gln114Ter)) Homo sapiens

Symbol: CV972613
Name: NM_000074.3(CD40LG):c.340C>T (p.Gln114Ter)
RGD ID: 40889497
Condition: Hyper-IgM syndrome type 1 [RCV001264504]
Clinical Significance: likely pathogenic
Last Evaluated: 10/14/2020
Review Status: criteria provided, single submitter
Related Genes: CD40LG  
Variant Type: single nucleotide variant (SO:0001587)
Source: CLINVAR
Molecular Consequence: nonsense
Evidence: clinical testing
HGVS Name(s): NM_000074.3:c.340C>T
LRG_141t1:c.340C>T
NM_000074.2:c.340C>T
NP_000065.1:p.Gln114Ter
LRG_141:g.11248C>T
NG_007280.1:g.11248C>T
NC_000023.11:g.136654424C>T
NC_000023.10:g.135736583C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X136,654,424 - 136,654,424CLINVAR
GRCh37X135,736,583 - 135,736,583CLINVAR
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 Information

Database Acc Id Source(s)
ClinVar RCV001264504 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR