RGD:13540653 Rat Genome Database

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Variant: RGD:13540653 -  Homo sapiens

RGD ID: 13540653
RS ID: rs1554806958
ClinVar ID: CV502697
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COL5A1  LOC101448202  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 137,711,943
GRCh38 9 134,820,097
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001278074.1:c.4447-19T>C
NG_008030.1:g.183292T>C
NC_000009.12:g.134820097T>C
NC_000009.11:g.137711943T>C
More... 		08/01/2017 intron variant likely benign AllHighlyPenetrant; EDS I; Ehlers-Danlos syndrome, classic type I; EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LOC101448202
Accession:NR_103451
Location:EXON;NON-CODING

Gene Symbol:COL5A1
Accession:NM_000093
Location:INTRON

Gene Symbol:COL5A1
Accession:NM_001278074
Location:INTRON

Gene Symbol:COL5A1
Accession:XM_017014266
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000615012 CLINVAR
  RCV002063974 CLINVAR
dbSNP (RS) rs1554806958 CLINVAR
MedGen C0268335 CLINVAR
  CN169374 CLINVAR
NCBI Gene 101448202 CLINVAR
  COL5A1 CLINVAR
OMIM 120215 CLINVAR
  130000 CLINVAR
SNOMED CT 83470009 CLINVAR