RGD:28876933 Rat Genome Database

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Variant: RGD:28876933 -  Homo sapiens

RGD ID: 28876933
RS ID: rs111470256
ClinVar ID: CV901204
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMT1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 134,398,699
GRCh38 9 131,523,312
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001353193.2:c.*206A>G
NM_001353194.2:c.*206A>G
NM_001353196.2:c.*206A>G
NM_001353197.2:c.*206A>G
More... 		01/12/2018 3 prime utr variant likely benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POMT1
Accession:XM_011518141
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:XM_011518142
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001353198
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001353195
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001374692
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001374695
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001136114
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:XM_011518145
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001353194
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001353199
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001374691
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:XM_047422640
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001077366
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001411024
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:XM_011518140
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001136113
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001077365
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001353193
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001353196
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:NM_007171
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001353197
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:XM_011518143
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001374689
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001353200
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001374690
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:NM_001374693
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:XM_047422642
Location:3UTRS;EXON

Gene Symbol:POMT1
Accession:NR_148397
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148393
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148398
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148400
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148396
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148394
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148395
Location:EXON;NON-CODING

Gene Symbol:POMT1
Accession:XM_047422641
Location:INTRON

Gene Symbol:POMT1
Accession:XR_007061229
Location:INTRON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148399
Location:INTRON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148392
Location:INTRON;NON-CODING

Gene Symbol:POMT1
Accession:NR_148391
Location:INTRON;NON-CODING

Gene Symbol:POMT1
Accession:XR_007061226
Location:INTRON;NON-CODING

Gene Symbol:POMT1
Accession:XR_001746160
Location:INTRON;NON-CODING

Gene Symbol:POMT1
Accession:XR_007061227
Location:INTRON;NON-CODING

Gene Symbol:POMT1
Accession:XR_007061228
Location:INTRON;NON-CODING

Gene Symbol:POMT1
Accession:XR_007061230
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001166295 CLINVAR
dbSNP (RS) rs111470256 CLINVAR
MedGen C1836373 CLINVAR
NCBI Gene POMT1 CLINVAR
OMIM 607423 CLINVAR
  609308 CLINVAR