RGD:28901542 Rat Genome Database

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Variant: RGD:28901542 -  Homo sapiens

RGD ID: 28901542
RS ID: rs535616736
ClinVar ID: CV865922
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 50,664,132
GRCh38 10 49,456,086
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000124.4:c.*2729G>A
LRG_465:g.88016G>A
NG_009442.1:g.88016G>A
NC_000010.11:g.49456086C>T
More... 		01/12/2018 3 prime utr 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_000124
Location:3UTRS;EXON

Gene Symbol:ERCC6
Accession:NM_001346440
Location:3UTRS;EXON

Gene Symbol:ERCC6
Accession:NM_001277058
Location:INTRON

Gene Symbol:ERCC6
Accession:NM_001277059
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001104304 CLINVAR
  RCV001107051 CLINVAR
  RCV001107052 CLINVAR
  RCV003413916 CLINVAR
dbSNP (RS) rs535616736 CLINVAR
MedGen C0220722 CLINVAR
  C0751038 CLINVAR
  C3151063 CLINVAR
  C3661900 CLINVAR
NCBI Gene ERCC6 CLINVAR
OMIM 133540 CLINVAR
  214150 CLINVAR
  609413 CLINVAR
  613761 CLINVAR