NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr)Rat Genome Database

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Variant : CV513287 (NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr)) Homo sapiens

Symbol: CV513287
Name: NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr)
RGD ID: 13528139
Condition: Ullrich congenital muscular dystrophy [RCV000625896]
Clinical Significance: uncertain significance
Last Evaluated: 12/03/2017
Review Status: criteria provided, single submitter
Related Genes: COL12A1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_042181.1:g.27727T>C
NP_004361.3:p.Ile587Thr
NC_000006.12:g.75183181A>G
NC_000006.11:g.75892897A>G
NM_004370.6:c.1760T>C
NM_080645.3:c.73+19539T>C
NM_004370.5:c.1760T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38675,183,181 - 75,183,181CLINVAR
GRCh37675,892,897 - 75,892,897CLINVAR
Cytogenetic Map66q13CLINVAR
Trait Synonyms: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 22; Scleroatonic muscular dystrophy; Ullrich disease; Ullrich muscular dystrophy; Ullrich scleroatonic muscular dystrophy



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000625896 CLINVAR
dbSNP (RS) rs1235556906 CLINVAR
MedGen C0410179 CLINVAR
NCBI Gene COL12A1 CLINVAR
OMIM 120320 CLINVAR
  254090 CLINVAR
SNOMED CT 240062007 CLINVAR