RGD:28891691 Rat Genome Database

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Variant: RGD:28891691 -  Homo sapiens

RGD ID: 28891691
RS ID: rs1891870150
ClinVar ID: CV872749
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130056177  POMT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 77,787,160
GRCh38 14 77,320,817
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_844t1:c.-136G>A
NM_013382.5:c.-136G>A
LRG_844:g.5066G>A
NC_000014.8:g.77787160C>T
More... 		01/13/2018 5 prime utr variant uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C2; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POMT2
Accession:XM_047431318
Location:5UTRS;EXON

Gene Symbol:POMT2
Accession:NM_013382
Location:5UTRS;EXON

Gene Symbol:POMT2
Accession:XM_047431316
Location:5UTRS;EXON

Gene Symbol:POMT2
Accession:XM_047431314
Location:5UTRS;EXON

Gene Symbol:POMT2
Accession:XM_047431312
Location:5UTRS;EXON

Gene Symbol:POMT2
Accession:XM_011536675
Location:5UTRS;EXON

Gene Symbol:POMT2
Accession:XM_047431313
Location:5UTRS;EXON

Gene Symbol:POMT2
Accession:XM_047431315
Location:5UTRS;EXON

Gene Symbol:POMT2
Accession:XM_011536677
Location:5UTRS;EXON

Gene Symbol:POMT2
Accession:XM_047431320
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431319
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431317
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001121072 CLINVAR
dbSNP (RS) rs1891870150 CLINVAR
MedGen C3150418 CLINVAR
NCBI Gene LOC130056177 CLINVAR
  POMT2 CLINVAR
OMIM 607439 CLINVAR
  613158 CLINVAR