RGD:405148635 Rat Genome Database

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Variant: RGD:405148635 -  Homo sapiens

RGD ID: 405148635
ClinVar ID: CV3141967
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BTK  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 100,625,087
GRCh38 X 101,370,099
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000061.3:c.310-20C>A
NM_001287345.2:c.310-20C>A
NM_001287344.2:c.412-20C>A
LRG_128:g.21126C>A
More... 		08/02/2023 intron variant benign 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 Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003839889 CLINVAR
MedGen C0472813 CLINVAR
NCBI Gene BTK CLINVAR
OMIM 300300 CLINVAR
  307200 CLINVAR
SNOMED CT 234533006 CLINVAR