RGD:12895593 Rat Genome Database

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Variant: RGD:12895593 -  Homo sapiens

RGD ID: 12895593
RS ID: rs1064793672
ClinVar ID: CV408412
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MEN1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 64,575,572
GRCh38 11 64,808,100
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_130803.3:c.461-1G>A
NM_130804.3:c.461-1G>A
NM_001370259.2:c.446-1G>A
NM_130799.2:c.446-1G>A
More... 		10/18/2019 splice acceptor variant pathogenic Cancer predisposition; Endocrine adenomatosis multiple; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; MEA I; MEN 1; MEN I; Neoplastic Syndromes, Hereditary; none provided; Tumor predisposition; Wermer syndrome
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:MEN1
Accession:XM_017017768
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407144
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001370259
Location:INTRON

Gene Symbol:MEN1
Accession:NM_130800
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001370251
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407149
Location:INTRON

Gene Symbol:MEN1
Accession:NM_130802
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407148
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407145
Location:INTRON

Gene Symbol:MEN1
Accession:XM_017017767
Location:INTRON

Gene Symbol:MEN1
Accession:NM_130801
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001370263
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001370260
Location:INTRON

Gene Symbol:MEN1
Accession:NM_000244
Location:INTRON

Gene Symbol:MEN1
Accession:XM_017017766
Location:INTRON

Gene Symbol:MEN1
Accession:NM_130804
Location:INTRON

Gene Symbol:MEN1
Accession:NM_130799
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407151
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407146
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407150
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407142
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407143
Location:INTRON

Gene Symbol:MEN1
Accession:NM_130803
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407152
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001370261
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407147
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001370262
Location:INTRON

Gene Symbol:MEN1
Accession:NR_176287
Location:INTRON;NON-CODING

Gene Symbol:MEN1
Accession:NR_176286
Location:INTRON;NON-CODING

Gene Symbol:MEN1
Accession:NR_176285
Location:INTRON;NON-CODING

Gene Symbol:MEN1
Accession:NR_176284
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:12112656   PMID:16199547   PMID:17853334   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000487061 CLINVAR
  RCV001022519 CLINVAR
  RCV001851155 CLINVAR
dbSNP (RS) rs1064793672 CLINVAR
MedGen C0025267 CLINVAR
  C0027672 CLINVAR
  C3661900 CLINVAR
NCBI Gene MEN1 CLINVAR
OMIM 131100 CLINVAR
  613733 CLINVAR
SNOMED CT 30664006 CLINVAR
  699346009 CLINVAR