RGD:12912706 Rat Genome Database

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Variant: RGD:12912706 -  Homo sapiens

RGD ID: 12912706
RS ID: rs370096853
ClinVar ID: CV421718
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMT1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 134,386,859
GRCh38 9 131,511,472
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_148400.2:n.1011G>A
NR_148398.2:n.1025G>A
NR_148396.2:n.806G>A
NR_148394.2:n.913G>A
More... 		09/25/2018 intron variant uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; Muscular dystrophy-dystroglycanopathy, type A; none provided; Walker-Warburg congenital muscular dystrophy; Walker-Warburg syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POMT1
Accession:NM_001411024
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:NM_001353198
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001374692
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001136113
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001353194
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001077366
Location:INTRON

Gene Symbol:POMT1
Accession:XM_011518140
Location:INTRON

Gene Symbol:POMT1
Accession:XM_047422641
Location:INTRON

Gene Symbol:POMT1
Accession:XM_047422642
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001353200
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001374693
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001353196
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001353197
Location:INTRON

Gene Symbol:POMT1
Accession:XM_011518141
Location:INTRON

Gene Symbol:POMT1
Accession:XM_011518143
Location:INTRON

Gene Symbol:POMT1
Accession:XM_011518145
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001353199
Location:INTRON

Gene Symbol:POMT1
Accession:XM_047422640
Location:INTRON

Gene Symbol:POMT1
Accession:XM_011518142
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001374690
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001353193
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001374695
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001136114
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001374689
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001077365
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001353195
Location:INTRON

Gene Symbol:POMT1
Accession:NM_007171
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001374691
Location:INTRON

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

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

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

Gene Symbol:POMT1
Accession:XR_007061229
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:NR_148395
Location:INTRON;NON-CODING

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

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

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

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

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000492919 CLINVAR
  RCV000648161 CLINVAR
dbSNP (RS) rs370096853 CLINVAR
MedGen C1836373 CLINVAR
  C3661900 CLINVAR
NCBI Gene POMT1 CLINVAR
OMIM 607423 CLINVAR
  609308 CLINVAR
  613155 CLINVAR
SNOMED CT 111504002 CLINVAR