RGD:11649970 Rat Genome Database

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Variant: RGD:11649970 -  Homo sapiens

RGD ID: 11649970
RS ID: rs886044875
ClinVar ID: CV272094
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BTK  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 100,614,274
GRCh38 X 101,359,286
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_128:g.31939G>A
NG_009616.1:g.31939G>A
NC_000023.11:g.101359286C>T
NC_000023.10:g.100614274C>T
More... 		07/28/2022 intron variant likely benign|uncertain significance Agammaglobulinemia and isolated growth hormone deficiency, X-linked; Fleisher syndrome; Growth hormone deficiency with hypogammaglobulinemia; Hypogammaglobulinemia and isolated growth hormone deficiency, X-linked; IGHD III; Isolated growth hormone deficiency type 3; ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BTK
Accession:NM_000061
Location:INTRON

Gene Symbol:BTK
Accession:NM_001287344
Location:INTRON

Gene Symbol:BTK
Accession:NM_001287345
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000290503 CLINVAR
  RCV002518002 CLINVAR
dbSNP (RS) rs886044875 CLINVAR
MedGen C0472813 CLINVAR
  C3661900 CLINVAR
NCBI Gene BTK CLINVAR
OMIM 300300 CLINVAR
  307200 CLINVAR
SNOMED CT 234533006 CLINVAR