RGD:11587531 Rat Genome Database

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Variant: RGD:11587531 -  Homo sapiens

RGD ID: 11587531
RS ID: rs144167726
ClinVar ID: CV284309
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C2orf88  MSTN  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 190,920,534
GRCh38 2 190,055,808
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_200t1:c.*1450T>C
LRG_200:g.11922T>C
NG_009800.1:g.11922T>C
NC_000002.12:g.190055808A>G
More... 		01/13/2018 3 prime utr variant benign|likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MSTN
Accession:NM_005259
Location:3UTRS;EXON

Gene Symbol:C2orf88
Accession:XM_047446009
Location:5UTRS;INTRON

Gene Symbol:C2orf88
Accession:XM_047446008
Location:5UTRS;INTRON

Gene Symbol:C2orf88
Accession:XM_011511983
Location:INTRON

Gene Symbol:C2orf88
Accession:NM_001042520
Location:INTRON

Gene Symbol:C2orf88
Accession:NM_032321
Location:INTRON

Gene Symbol:C2orf88
Accession:NM_001042521
Location:INTRON

Gene Symbol:C2orf88
Accession:NM_001042519
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000295685 CLINVAR
dbSNP (RS) rs144167726 CLINVAR
MedGen C2931112 CLINVAR
NCBI Gene C2orf88 CLINVAR
  MSTN CLINVAR
OMIM 601788 CLINVAR
  614160 CLINVAR
  615117 CLINVAR