RGD:11620470 Rat Genome Database

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Variant: RGD:11620470 -  Homo sapiens

RGD ID: 11620470
RS ID: rs574303799
ClinVar ID: CV330775
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMT2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 77,743,286
GRCh38 14 77,276,943
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_844t1:c.*433T>C
LRG_844:g.48940T>C
NG_008897.1:g.48940T>C
NC_000014.9:g.77276943A>G
More... 		06/14/2016 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POMT2
Accession:XM_047431317
Location:3UTRS;EXON

Gene Symbol:POMT2
Accession:XM_047431318
Location:3UTRS;EXON

Gene Symbol:POMT2
Accession:XM_047431313
Location:3UTRS;EXON

Gene Symbol:POMT2
Accession:XM_011536677
Location:3UTRS;EXON

Gene Symbol:POMT2
Accession:XM_047431316
Location:3UTRS;EXON

Gene Symbol:POMT2
Accession:NM_013382
Location:3UTRS;EXON

Gene Symbol:POMT2
Accession:XM_011536675
Location:3UTRS;EXON

Gene Symbol:POMT2
Accession:XM_047431320
Location:3UTRS;EXON

Gene Symbol:POMT2
Accession:XM_047431319
Location:3UTRS;EXON

Gene Symbol:POMT2
Accession:XM_047431314
Location:3UTRS;EXON

Gene Symbol:POMT2
Accession:XM_047431312
Location:3UTRS;EXON

Gene Symbol:POMT2
Accession:XM_047431315
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000337121 CLINVAR
dbSNP (RS) rs574303799 CLINVAR
MedGen CN239352 CLINVAR
NCBI Gene POMT2 CLINVAR
OMIM 607439 CLINVAR