RGD:405073430 Rat Genome Database

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Variant: RGD:405073430 -  Homo sapiens

RGD ID: 405073430
ClinVar ID: CV3145411
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MED12  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 70,350,077
GRCh38 X 71,130,227
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.4047+13C>T
NG_012808.1:g.16672C>T
NC_000023.11:g.71130227C>T
NC_000023.10:g.70350077C>T
 04/12/2023 intron variant likely benign
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_047442700
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_047442702
Location:INTRON

Gene Symbol:MED12
Accession:XM_047442704
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003850996 CLINVAR
MedGen C0220769 CLINVAR
NCBI Gene MED12 CLINVAR
OMIM 300188 CLINVAR
  305450 CLINVAR
SNOMED CT 49984004 CLINVAR