RGD:8569649 Rat Genome Database

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Variant: RGD:8569649 -  Homo sapiens

RGD ID: 8569649
RS ID: rs386134250
ClinVar ID: CV45187
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MEN1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 64,577,581
GRCh38 11 64,810,109
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_509:g.6186A>G
NG_008929.1:g.6186A>G
NC_000011.10:g.64810109T>C
p.Met1?
More... 		08/22/2020 initiatior codon variant|initiator_codon_variant|missense|missense variant pathogenic|likely pathogenic all ages|variable 1-9 / 100 000 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_000244
Location:EXON

Gene Symbol:
Accession:
Location:EXON

Gene Symbol:MEN1
Accession:XM_017017768
Location:EXON

Gene Symbol:MEN1
Accession:NM_001370251
Location:EXON

Gene Symbol:MEN1
Accession:NM_001370259
Location:EXON

Gene Symbol:MEN1
Accession:NM_001407149
Location:EXON

Gene Symbol:MEN1
Accession:NM_130802
Location:EXON

Gene Symbol:MEN1
Accession:NM_130801
Location:EXON

Gene Symbol:MEN1
Accession:NM_001407147
Location:EXON

Gene Symbol:MEN1
Accession:NM_001407143
Location:EXON

Gene Symbol:MEN1
Accession:NM_001370260
Location:EXON

Gene Symbol:MEN1
Accession:NM_001407148
Location:EXON

Gene Symbol:MEN1
Accession:NM_001407142
Location:EXON

Gene Symbol:MEN1
Accession:NM_001407145
Location:EXON

Gene Symbol:MEN1
Accession:NM_001370263
Location:EXON

Gene Symbol:MEN1
Accession:NM_130804
Location:EXON

Gene Symbol:MEN1
Accession:NM_001370262
Location:EXON

Gene Symbol:MEN1
Accession:NM_001407146
Location:EXON

Gene Symbol:MEN1
Accession:NM_130800
Location:EXON

Gene Symbol:MEN1
Accession:NM_001407152
Location:EXON

Gene Symbol:MEN1
Accession:NM_001407150
Location:EXON

Gene Symbol:MEN1
Accession:NM_130799
Location:EXON

Gene Symbol:MEN1
Accession:XM_017017767
Location:EXON

Gene Symbol:MEN1
Accession:NM_001370261
Location:EXON

Gene Symbol:MEN1
Accession:NM_001407144
Location:EXON

Gene Symbol:
Accession:
Location:EXON

Gene Symbol:MEN1
Accession:XM_017017766
Location:EXON

Gene Symbol:MEN1
Accession:NM_001407151
Location:EXON

Gene Symbol:MEN1
Accession:NM_130803
Location:EXON

Gene Symbol:
Accession:
Location:EXON

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:12213668   PMID:15714081   PMID:25741868   PMID:28492532   PMID:28736585   PMID:29036195  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000030198 CLINVAR
  RCV000480514 CLINVAR
  RCV000491918 CLINVAR
  RCV000508430 CLINVAR
dbSNP (RS) rs386134250 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