RGD:151821243 Rat Genome Database

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Variant: RGD:151821243 -  Homo sapiens

RGD ID: 151821243
RS ID: rs2147423955
ClinVar ID: CV1449488
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BTK  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 100,608,181
GRCh38 X 101,353,193
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001287345.2:c.1380+1G>T
NM_000061.3:c.1908+1G>T
NM_001287344.2:c.2010+1G>T
LRG_128:g.38032G>T
More... 		08/12/2021 splice donor variant likely pathogenic 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
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:1240516   PMID:9260159   PMID:9536098   PMID:11027452   PMID:12655572   PMID:17576681   PMID:25777788   PMID:27512878   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002013402 CLINVAR
dbSNP (RS) rs2147423955 CLINVAR
MedGen C0472813 CLINVAR
NCBI Gene BTK CLINVAR
OMIM 300300 CLINVAR
  307200 CLINVAR
SNOMED CT 234533006 CLINVAR