RGD:11599828 Rat Genome Database

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Variant: RGD:11599828 -  Homo sapiens

RGD ID: 11599828
RS ID: rs766986601
ClinVar ID: CV322331
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC6  LOC130003806  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 50,746,997
GRCh38 10 49,538,951
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_465:g.5151G>A
NG_009442.1:g.5151G>A
NC_000010.11:g.49538951C>T
NC_000010.10:g.50746997C>T
More... 		06/14/2016 intron variant uncertain significance Cerebro-oculo-facio-skeletal syndrome; Cerebrooculofacioskeletal Syndrome; Cockayne's syndrome; Degenerative disorder of macula; Dwarfism-retinal atrophy-deafness syndrome; PENA-SHOKEIR SYNDROME, TYPE II; Progeria-like syndrome; Progeroid nanism
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:ERCC6
Accession:NM_000124
Location:5UTRS;INTRON

Gene Symbol:ERCC6
Accession:NM_001277059
Location:5UTRS;INTRON

Gene Symbol:ERCC6
Accession:NM_001277058
Location:5UTRS;INTRON

Gene Symbol:ERCC6
Accession:NM_001346440
Location:5UTRS;INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000268677 CLINVAR
  RCV000326123 CLINVAR
  RCV000366090 CLINVAR
dbSNP (RS) rs766986601 CLINVAR
MedGen C0009207 CLINVAR
  C0024437 CLINVAR
  C5399761 CLINVAR
NCBI Gene ERCC6 CLINVAR
  LOC130003806 CLINVAR
OMIM 214150 CLINVAR
  609413 CLINVAR
SNOMED CT 21086008 CLINVAR
  41283003 CLINVAR
  422338006 CLINVAR