RGD:38463617 Rat Genome Database

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Variant: RGD:38463617 -  Homo sapiens

RGD ID: 38463617
RS ID: rs750243844
ClinVar ID: CV920436
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PHF6  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 133,512,146
GRCh38 X 134,378,116
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_032335.3:c.240+10T>C
NM_032458.3:c.240+10T>C
LRG_629:g.9805T>C
LRG_629t1:c.240+10T>C
More... 		03/21/2019 intron variant benign Borjeson Syndrome; Mental deficiency, epilepsy and endocrine disorders; MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS; MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PHF6
Accession:NM_001015877
Location:INTRON

Gene Symbol:PHF6
Accession:NM_032335
Location:INTRON

Gene Symbol:PHF6
Accession:NM_032458
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001199193 CLINVAR
dbSNP (RS) rs750243844 CLINVAR
MedGen C0265339 CLINVAR
NCBI Gene PHF6 CLINVAR
OMIM 300414 CLINVAR
  301900 CLINVAR
SNOMED CT 21634003 CLINVAR