RGD:11050164 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:11050164 -  Homo sapiens

RGD ID: 11050164
RS ID: rs373609932
ClinVar ID: CV225551
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MEN1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 64,573,095
GRCh38 11 64,805,623
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_509:g.10672G>A
NG_008929.1:g.10672G>A
NC_000011.10:g.64805623C>T
NC_000011.9:g.64573095C>T
More...
12/17/2021 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; 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:MEN1
Accession:NM_001370263
Location:INTRON

Gene Symbol:MEN1
Accession:NM_130804
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001370262
Location:INTRON

Gene Symbol:MEN1
Accession:NM_130803
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407149
Location:INTRON

Gene Symbol:MEN1
Accession:NM_000244
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001370259
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001370261
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407148
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407143
Location:INTRON

Gene Symbol:MEN1
Accession:NM_130800
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407150
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407152
Location:INTRON

Gene Symbol:MEN1
Accession:NM_130802
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001370260
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407147
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MEN1
Accession:XM_017017766
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407144
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407145
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407151
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407146
Location:INTRON

Gene Symbol:MEN1
Accession:NM_130801
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001370251
Location:INTRON

Gene Symbol:MEN1
Accession:NM_001407142
Location:INTRON

Gene Symbol:MEN1
Accession:NM_130799
Location:INTRON

Gene Symbol:MEN1
Accession:XM_017017768
Location:INTRON

Gene Symbol:MEN1
Accession:XM_017017767
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000209727 CLINVAR
  RCV000608324 CLINVAR
  RCV001529469 CLINVAR
  RCV001762454 CLINVAR
dbSNP (RS) rs373609932 CLINVAR
MedGen C0025267 CLINVAR
  C0027672 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MEN1 CLINVAR
OMIM 131100 CLINVAR
  613733 CLINVAR
SNOMED CT 30664006 CLINVAR
  699346009 CLINVAR