RGD:402476977 Rat Genome Database

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Variant: RGD:402476977 -  Homo sapiens

RGD ID: 402476977
ClinVar ID: CV2990130
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BTK  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 100,614,338
GRCh38 X 101,359,350
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.840-3C>G
NM_001287345.2:c.840-3C>G
NM_001287344.2:c.942-3C>G
LRG_128:g.31875C>G
More... 		01/13/2023 intron variant 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
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:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003625475 CLINVAR
MedGen C0472813 CLINVAR
NCBI Gene BTK CLINVAR
OMIM 300300 CLINVAR
  307200 CLINVAR
SNOMED CT 234533006 CLINVAR