RGD:126769416 Rat Genome Database

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Variant: RGD:126769416 -  Homo sapiens

RGD ID: 126769416
RS ID: rs2076094894
ClinVar ID: CV1035367
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD40LG  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 135,730,480
GRCh38 X 136,648,321
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000074.3:c.73A>G
LRG_141:g.5145A>G
NG_007280.1:g.5145A>G
NC_000023.11:g.136648321A>G
More... 		02/18/2020 missense variant uncertain significance Hyper IgM immunodeficiency, X-linked; Hyper-IgM Immunodeficiency Syndrome, Type 1; Immunodeficiency with hyper IgM type 1; X-linked hyper-IgM syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CD40LG
Accession:NM_000074
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIETYNQTSPRSAATGLPISMKIFVYLLTVFLITQMIGSALFAVYLHRRLDKIEDERNLHEDFVFMKTIQRCNTGERSLS
LLNCEEIKSQFEGFVKDIMLNKEETKKENSFEMQKGDQNPQIAAHVISEASSKTTSVLQWAEKGYYTMSNNLVTLENGKQ
LTVKRQGLYYIYAQVTFCSNREASSQAPFIASLCLKSPGRFERILLRAANTHSSAKPCGQQSIHLGGVFELQPGASVFVN
VTDPSQVSHGTGFTSFGLLKL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001343909 CLINVAR
dbSNP (RS) rs2076094894 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR