RGD:11652542 Rat Genome Database

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Variant: RGD:11652542 -  Homo sapiens

RGD ID: 11652542
RS ID: rs886050825
ClinVar ID: CV339470
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMT2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 77,743,616
GRCh38 14 77,277,273
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_844t1:c.*103C>T
LRG_844:g.48610C>T
NG_008897.1:g.48610C>T
NC_000014.9:g.77277273G>A
More... 		01/13/2018 3 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_047431319
Location:3UTRS;EXON

Gene Symbol:POMT2
Accession:XM_047431312
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:XM_047431320
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:NM_013382
Location:3UTRS;EXON

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

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

Gene Symbol:POMT2
Accession:XM_047431317
Location:3UTRS;EXON

Gene Symbol:POMT2
Accession:XM_047431315
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000305492 CLINVAR
dbSNP (RS) rs886050825 CLINVAR
MedGen C3150418 CLINVAR
NCBI Gene POMT2 CLINVAR
OMIM 607439 CLINVAR
  613158 CLINVAR