RGD:14734242 Rat Genome Database

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Variant: RGD:14734242 -  Homo sapiens

RGD ID: 14734242
RS ID: rs773246323
ClinVar ID: CV652955
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STAT5B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 40,375,395
GRCh38 17 42,223,377
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_192t1:c.550+5G>A
LRG_192:g.58030G>A
NG_007271.1:g.58030G>A
NC_000017.11:g.42223377C>T
More... 		12/18/2018 intron variant uncertain significance Growth hormone insensitivity due to postreceptor defect; GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE; Growth hormone insensitivity with immunodeficiency; Laron syndrome due to postreceptor defect; Laron syndrome with immunodeficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STAT5B
Accession:XM_024450897
Location:INTRON

Gene Symbol:STAT5B
Accession:NM_012448
Location:INTRON

Gene Symbol:STAT5B
Accession:XM_017024977
Location:INTRON

Gene Symbol:STAT5B
Accession:XM_024450898
Location:INTRON

Gene Symbol:STAT5B
Accession:XM_047436593
Location:INTRON

Gene Symbol:STAT5B
Accession:XM_005257626
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000802655 CLINVAR
dbSNP (RS) rs773246323 CLINVAR
MedGen C5435698 CLINVAR
NCBI Gene STAT5B CLINVAR
OMIM 245590 CLINVAR
  604260 CLINVAR