RGD:156349836 Rat Genome Database

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Variant: RGD:156349836 -  Homo sapiens

RGD ID: 156349836
ClinVar ID: CV1878341
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BTK  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 100,609,684
GRCh38 X 101,354,696
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.1039-2A>C
NM_000061.3:c.1567-2A>C
NM_001287344.2:c.1669-2A>C
LRG_128:g.36529A>C
More... 		08/27/2022 splice acceptor variant 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:12405164   PMID:15661032   PMID:16199547   PMID:16862044   PMID:19419768   PMID:19904586   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003064756 CLINVAR
MedGen C0472813 CLINVAR
NCBI Gene BTK CLINVAR
OMIM 300300 CLINVAR
  307200 CLINVAR
SNOMED CT 234533006 CLINVAR