RGD:126748220 Rat Genome Database

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Variant: RGD:126748220 -  Homo sapiens

RGD ID: 126748220
RS ID: rs1360206873
ClinVar ID: CV1011252
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMT2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 77,744,732
GRCh38 14 77,278,389
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_013382.7:c.2147+5G>C
LRG_844:g.47494G>C
NG_008897.1:g.47494G>C
NC_000014.9:g.77278389C>G
More... 		09/09/2020 intron variant uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2N; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2; MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMT2-RELATED; WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POMT2
Accession:NM_013382
Location:INTRON

Gene Symbol:POMT2
Accession:XM_011536675
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431319
Location:INTRON

Gene Symbol:POMT2
Accession:XM_011536677
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431313
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431314
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431317
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431312
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431315
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431318
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431320
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431316
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001315494 CLINVAR
dbSNP (RS) rs1360206873 CLINVAR
MedGen C3150411 CLINVAR
NCBI Gene POMT2 CLINVAR
OMIM 607439 CLINVAR
  613150 CLINVAR
  613156 CLINVAR
  613158 CLINVAR