RGD:11636678 Rat Genome Database

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Variant: RGD:11636678 -  Homo sapiens

RGD ID: 11636678
RS ID: rs201921627
ClinVar ID: CV273716
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POMT2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 14 77,757,730
GRCh38 14 77,291,387
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_844:g.34496C>G
NG_008897.1:g.34496C>G
NC_000014.9:g.77291387G>C
NC_000014.8:g.77757730G>C
More...
08/09/2022 intron variant likely benign|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; none provided; 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_011536677
Location:INTRON

Gene Symbol:POMT2
Accession:XM_011536675
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431314
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431318
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431316
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431313
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431312
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431320
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431319
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431317
Location:INTRON

Gene Symbol:POMT2
Accession:XM_047431315
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000272937 CLINVAR
  RCV002518086 CLINVAR
dbSNP (RS) rs201921627 CLINVAR
MedGen C3150411 CLINVAR
  C3661900 CLINVAR
  CN517202 CLINVAR
NCBI Gene POMT2 CLINVAR
OMIM 607439 CLINVAR
  613150 CLINVAR
  613156 CLINVAR
  613158 CLINVAR