NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val)Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant : CV539003 (NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val)) Homo sapiens

Symbol: CV539003
Name: NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val)
RGD ID: 13704773
Condition: Bethlem myopathy 2 [RCV000661959]|Ullrich congenital muscular dystrophy 2 [RCV000691825]|Ullrich congenital muscular dystrophy [RCV000661958]
Clinical Significance: uncertain significance
Last Evaluated: 12/28/2018
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): NP_004361.3:p.Ala703Val
NC_000006.12:g.75180995G>A
NG_042181.1:g.29913C>T
NC_000006.11:g.75890711G>A
NM_004370.6:c.2108C>T
NM_080645.3:c.73+21725C>T
NM_004370.5:c.2108C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38675,180,995 - 75,180,995CLINVAR
GRCh37675,890,711 - 75,890,711CLINVAR
Cytogenetic Map66q13CLINVAR
Trait Synonyms: Bethlem myopathy 2; 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   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000661958 CLINVAR
  RCV000661959 CLINVAR
  RCV000691825 CLINVAR
dbSNP (RS) rs1013873051 CLINVAR
MedGen C0410179 CLINVAR
  C4225313 CLINVAR
  C4225314 CLINVAR
NCBI Gene COL12A1 CLINVAR
OMIM 120320 CLINVAR
  254090 CLINVAR
  616470 CLINVAR
  616471 CLINVAR
SNOMED CT 240062007 CLINVAR