RGD:11651427 Rat Genome Database

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Variant: RGD:11651427 -  Homo sapiens

RGD ID: 11651427
RS ID: rs886063786
ClinVar ID: CV312248
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MTAP  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 21,863,210
GRCh38 9 21,863,211
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_032650.1:g.65576C>G
NC_000009.12:g.21863211C>G
NC_000009.11:g.21863210C>G
NM_002451.4:c.*1197C>G
More... 		06/14/2016 3 prime utr variant uncertain significance Bone dysplasia with malignant fibrous histiocytoma; Bone dysplasia with medullary fibrosarcoma; Diaphyseal medullary stenosis with malignant fibrous histiocytoma; MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MTAP
Accession:NM_002451
Location:3UTRS;EXON

Gene Symbol:MTAP
Accession:NM_001396040
Location:3UTRS;EXON

Gene Symbol:MTAP
Accession:NR_173242
Location:EXON;NON-CODING

Gene Symbol:MTAP
Accession:NM_001396044
Location:INTRON

Gene Symbol:MTAP
Accession:NM_001396042
Location:INTRON

Gene Symbol:MTAP
Accession:NM_001396045
Location:INTRON

Gene Symbol:MTAP
Accession:NM_001396043
Location:INTRON

Gene Symbol:MTAP
Accession:NM_001396041
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000299102 CLINVAR
dbSNP (RS) rs886063786 CLINVAR
MedGen C1862177 CLINVAR
NCBI Gene MTAP CLINVAR
OMIM 112250 CLINVAR
  156540 CLINVAR
  609940 CLINVAR