RGD:405088044 Rat Genome Database

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Variant: RGD:405088044 -  Homo sapiens

RGD ID: 405088044
ClinVar ID: CV2890257
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MED12  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 70,361,073
GRCh38 X 71,141,223
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.6268-7C>G
NG_015874.2:g.1384C>G
NG_015874.1:g.1393C>G
NG_012808.1:g.27668C>G
More... 		10/29/2023 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View
FG syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:MED12
Accession:XM_047442700
Location:3UTRS;EXON

Gene Symbol:MED12
Accession:XM_047442703
Location:3UTRS;EXON

Gene Symbol:MED12
Accession:XM_047442701
Location:3UTRS;EXON

Gene Symbol:MED12
Accession:XM_047442699
Location:3UTRS;EXON

Gene Symbol:MED12
Accession:XM_047442702
Location:3UTRS;EXON

Gene Symbol:MED12
Accession:XM_047442704
Location:3UTRS;EXON

Gene Symbol:MED12
Accession:NM_005120
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003596819 CLINVAR
MedGen C0220769 CLINVAR
NCBI Gene MED12 CLINVAR
OMIM 300188 CLINVAR
  305450 CLINVAR
SNOMED CT 49984004 CLINVAR