RGD:13525097 Rat Genome Database

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Variant: RGD:13525097 -  Homo sapiens

RGD ID: 13525097
RS ID: rs200891932
ClinVar ID: CV508374
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MED12  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 70,344,609
GRCh38 X 71,124,759
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005120.3:c.1975-5C>T
NM_005120.2:c.1975-5C>T
NC_000023.10:g.70344609C>T
NC_000023.11:g.71124759C>T
More... 		06/02/2018 intron variant benign|likely benign AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View
FG syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:MED12
Accession:NM_005120
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442702
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442703
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442701
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442699
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442704
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442700
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000602695 CLINVAR
  RCV003596058 CLINVAR
dbSNP (RS) rs200891932 CLINVAR
MedGen C0220769 CLINVAR
  CN169374 CLINVAR
NCBI Gene MED12 CLINVAR
OMIM 300188 CLINVAR
  305450 CLINVAR
SNOMED CT 49984004 CLINVAR