RGD:8598670 Rat Genome Database

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Variant: RGD:8598670 -  Homo sapiens

RGD ID: 8598670
RS ID: rs104894775
ClinVar ID: CV26202
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD40LG  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 135,741,207
GRCh38 X 136,659,048
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_141:g.15872G>A
NG_007280.1:g.15872G>A
NC_000023.11:g.136659048G>A
NC_000023.10:g.135741207G>A
More...
04/04/2013 nonsense|stop-gain pathogenic 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: W to * (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIETYNQTSPRSAATGLPISMKIFMYLLTVFLITQMIGSALFAVYLHRRLDKIEDERNLHEDFVFMKTIQRCNTGERSLS
LLNCEEIKSQFEGFVKDIMLNKEETKKENSFEMQKGDQNPQIAAHVISEASSKTTSVLQ*AEKGYYTMSNNLVTLENGKQ
LTVKRQGLYYIYAQVTFCSNREASSQAPFIASLCLKSPGRFERILLRAANTHSSAKPCGQQSIHLGGVFELQPGASVFVN
VTDPSQVSHGTGFTSFGLLKL*

Variant Samples
Additional References at PubMed
PMID:7679206   PMID:7717401  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011913 CLINVAR
dbSNP (RS) rs104894775 CLINVAR
MedGen C0398689 CLINVAR
NCBI Gene CD40LG CLINVAR
OMIM 300386 CLINVAR
  308230 CLINVAR
OMIM Allele 300386.0007 CLINVAR