RGD:38495503 Rat Genome Database

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Variant: RGD:38495503 -  Homo sapiens

RGD ID: 38495503
RS ID: rs1945782278
ClinVar ID: CV959915
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 134,381,609
GRCh38 9 131,506,222
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001353195.2:c.-122-181T>C
NM_001353199.2:c.-122-181T>C
NM_001374695.1:c.-30+1882T>C
NM_001374691.1:c.-71-1146T>C
More... 		09/05/2019 intron variant likely pathogenic Cerebroocular dysgenesis; Cerebroocular dysplasia muscular dystrophy syndrome; Chemke syndrome; COD-MD syndrome; Hard +/- E syndrome; Hydrocephalus, agyria and retinal dysplasia; Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED; MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; 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; Pagon syndrome; Walker-Warburg congenital muscular dystrophy; Walker-Warburg syndrome; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED; Warburg syndrome

Variant Details
Variant Transcripts
Gene Symbol:POMT1
Accession:NM_001353200
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:NM_001136114
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:NM_001353195
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:XM_011518145
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:NM_001374691
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:NM_001353199
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:NM_001374692
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:NM_001374695
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:NM_001411024
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:POMT1
Accession:XM_011518142
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001353193
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001374690
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001136113
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001353197
Location:INTRON

Gene Symbol:POMT1
Accession:XM_047422641
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001374693
Location:INTRON

Gene Symbol:POMT1
Accession:XM_047422642
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001353198
Location:INTRON

Gene Symbol:POMT1
Accession:XM_047422640
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001077365
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001353196
Location:INTRON

Gene Symbol:POMT1
Accession:NM_007171
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001077366
Location:INTRON

Gene Symbol:POMT1
Accession:XM_011518143
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001374689
Location:INTRON

Gene Symbol:POMT1
Accession:XM_011518140
Location:INTRON

Gene Symbol:POMT1
Accession:NM_001353194
Location:INTRON

Gene Symbol:POMT1
Accession:XM_011518141
Location:INTRON

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

Gene Symbol:POMT1
Accession:XR_007061228
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:XR_007061230
Location:INTRON;NON-CODING

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

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

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

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

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

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

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:12369018   PMID:15637732   PMID:16199547   PMID:16575835   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001225759 CLINVAR
  RCV003473785 CLINVAR
dbSNP (RS) rs1945782278 CLINVAR
MedGen C1836373 CLINVAR
  C4284790 CLINVAR
NCBI Gene POMT1 CLINVAR
OMIM 236670 CLINVAR
  607423 CLINVAR
  609308 CLINVAR
  613155 CLINVAR
SNOMED CT 111504002 CLINVAR