RGD:13436835 Rat Genome Database

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Variant: RGD:13436835 -  Homo sapiens

RGD ID: 13436835
RS ID: rs67525025
ClinVar ID: CV433414
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL1A2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 94,038,110
GRCh38 7 94,408,798
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_2t1:c.767G>T
LRG_2:g.19238G>T
NG_007405.1:g.19238G>T
NC_000007.14:g.94408798G>T
More...
03/31/2021 missense variant pathogenic|likely pathogenic EDS I; Ehlers-Danlos syndrome, classic type I; Ehlers-Danlos syndrome, classic type, 1; EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; Lobstein disease; Lobstein's Disease; none provided; OI type 1; OI type 1A; OI type 2A; OI type IIA; OI, TYPE I; OI, TYPE II; Osteogenesis imperfecta congenita; Osteogenesis imperfecta congenita perinatal lethal form; Osteogenesis imperfecta tarda; Osteogenesis imperfecta type 1; Osteogenesis imperfecta type 1 with dentinogenesis imperfecta; Osteogenesis imperfecta type 1A; Osteogenesis imperfecta Type 2; Osteogenesis imperfecta type 2A; Osteogenesis Imperfecta Type IIA; Osteogenesis imperfecta with blue sclerae; Osteogenesis imperfecta with opalescent teeth; OSTEOGENESIS IMPERFECTA, TYPE II; Vrolik type of osteogenesis imperfecta
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COL1A2
Accession:NM_000089
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 256
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSFVDTRTLLLLAVTLCLATCQSLQEETVRKGPAGDRGPRGERGPPGPPGRDGEDGPTGPPGPPGPPGPPGLGGNFAAQ
YDGKGVGLGPGPMGLMGPRGPPGAAGAPGPQGFQGPAGEPGEPGQTGPAGARGPAGPPGKAGEDGHPGKPGRPGERGVVG
PQGARGFPGTPGLPGFKGIRGHNGLDGLKGQPGAPGVKGEPGAPGENGTPGQTGARGLPGERGRVGAPGPAGARGSDGSV
GPVGPAGPIGSAGPPVFPGAPGPKGEIGAVGNAGPAGPAGPRGEVGLPGLSGPVGPPGNPGANGLTGAKGAAGLPGVAGA
PGLPGPRGIPGPVGAAGATGARGLVGEPGPAGSKGESGNKGEPGSAGPQGPPGPSGEEGKRGPNGEAGSAGPPGPPGLRG
SPGSRGLPGADGRAGVMGPPGSRGASGPAGVRGPNGDAGRPGEPGLMGPRGLPGSPGNIGPAGKEGPVGLPGIDGRPGPI
GPAGARGEPGNIGFPGPKGPTGDPGKNGDKGHAGLAGARGAPGPDGNNGAQGPPGPQGVQGGKGEQGPPGPPGFQGLPGP
SGPAGEVGKPGERGLHGEFGLPGPAGPRGERGPPGESGAAGPTGPIGSRGPSGPPGPDGNKGEPGVVGAVGTAGPSGPSG
LPGERGAAGIPGGKGEKGEPGLRGEIGNPGRDGARGAPGAVGAPGPAGATGDRGEAGAAGPAGPAGPRGSPGERGEVGPA
GPNGFAGPAGAAGQPGAKGERGAKGPKGENGVVGPTGPVGAAGPAGPNGPPGPAGSRGDGGPPGMTGFPGAAGRTGPPGP
SGISGPPGPPGPAGKEGLRGPRGDQGPVGRTGEVGAVGPPGFAGEKGPSGEAGTAGPPGTPGPQGLLGAPGILGLPGSRG
ERGLPGVAGAVGEPGPLGIAGPPGARGPPGAVGSPGVNGAPGEAGRDGNPGNDGPPGRDGQPGHKGERGYPGNIGPVGAA
GAPGPHGPVGPAGKHGNRGETGPSGPVGPAGAVGPRGPSGPQGIRGDKGEPGEKGPRGLPGLKGHNGLQGLPGIAGHHGD
QGAPGSVGPAGPRGPAGPSGPAGKDGRTGHPGTVGPAGIRGPQGHQGPAGPPGPPGPPGPPGVSGGGYDFGYDGDFYRAD
QPRSAPSLRPKDYEVDATLKSLNNQIETLLTPEGSRKNPARTCRDLRLSHPEWSSGYYWIDPNQGCTMDAIKVYCDFSTG
ETCIRAQPENIPAKNWYRSSKDKKHVWLGETINAGSQFEYNVEGVTSKEMATQLAFMRLLANYASQNITYHCKNSIAYMD
EETGNLKKAVILQGSNDVELVAEGNSRFTYTVLVDGCSKKTNEWGKTIIEYKTNKPSRLPFLDIAPLDIGGADQEFFVDI
GPVCFK*

Variant Samples
Additional References at PubMed
PMID:7695699   PMID:8218237   PMID:9016532   PMID:16786509   PMID:17078022   PMID:19344236   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000507846 CLINVAR
  RCV001542469 CLINVAR
  RCV002231188 CLINVAR
dbSNP (RS) rs67525025 CLINVAR
MedGen C0023931 CLINVAR
  C0268358 CLINVAR
  C3661900 CLINVAR
NCBI Gene COL1A2 CLINVAR
OMIM 120160 CLINVAR
  130000 CLINVAR
  166200 CLINVAR
  166210 CLINVAR
SNOMED CT 385482004 CLINVAR
  86470003 CLINVAR