RGD:15156628 Rat Genome Database

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Variant: RGD:15156628 -  Homo sapiens

RGD ID: 15156628
RS ID: rs147637331
ClinVar ID: CV744510
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC6  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 50,679,174
GRCh38 10 49,471,128
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009442.1:g.72974T>A
NC_000010.11:g.49471128A>T
NC_000010.10:g.50679174A>T
NM_000124.3:c.2925-8T>A
More... 		02/15/2019 intron variant likely benign|uncertain significance Cerebro-oculo-facio-skeletal syndrome 1; Cockayne syndrome type 2; Cockayne syndrome B; Cockayne Syndrome, Type II; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ERCC6
Accession:NM_001277058
Location:INTRON

Gene Symbol:ERCC6
Accession:NM_001346440
Location:INTRON

Gene Symbol:ERCC6
Accession:NM_001277059
Location:INTRON

Gene Symbol:ERCC6
Accession:NM_000124
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000902364 CLINVAR
  RCV001103341 CLINVAR
  RCV001103342 CLINVAR
  RCV001108519 CLINVAR
dbSNP (RS) rs147637331 CLINVAR
MedGen C0220722 CLINVAR
  C0751038 CLINVAR
  C3151063 CLINVAR
  C3661900 CLINVAR
NCBI Gene ERCC6 CLINVAR
OMIM 133540 CLINVAR
  214150 CLINVAR
  609413 CLINVAR
  613761 CLINVAR