NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys)Rat Genome Database

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Variant : CV626168 (NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys)) Homo sapiens

Symbol: CV626168
Name: NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys)
RGD ID: 14702674
Condition: Bethlem myopathy 2 [RCV000791107]|Ullrich congenital muscular dystrophy [RCV000791108]
Clinical Significance: uncertain significance
Last Evaluated: 04/27/2019
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): NM_080645.3:c.73+13473C>T
NM_004370.6:c.793C>T
NG_042181.1:g.21661C>T
NC_000006.12:g.75189247G>A
NC_000006.11:g.75898963G>A
NM_004370.5:c.793C>T
NP_004361.3:p.Arg265Cys
Position
Human AssemblyChrPosition (strand)Source
GRCh38675,189,247 - 75,189,247CLINVAR
GRCh37675,898,963 - 75,898,963CLINVAR
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 RCV000791107 CLINVAR
  RCV000791108 CLINVAR
dbSNP (RS) rs749760185 CLINVAR
MedGen C0410179 CLINVAR
  C4225313 CLINVAR
NCBI Gene COL12A1 CLINVAR
OMIM 120320 CLINVAR
  254090 CLINVAR
  616471 CLINVAR
SNOMED CT 240062007 CLINVAR