RGD:15102417 Rat Genome Database

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Variant: RGD:15102417 -  Homo sapiens

RGD ID: 15102417
RS ID: rs781880461
ClinVar ID: CV690264
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DKC1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 154,001,532
GRCh38 X 154,773,257
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001288747.2:c.1155+8G>A
NG_009780.1:g.15502G>A
NC_000023.11:g.154773257G>A
NC_000023.10:g.154001532G>A
More... 		12/05/2018 intron variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DKC1
Accession:NM_001288747
Location:INTRON

Gene Symbol:DKC1
Accession:NM_001142463
Location:INTRON

Gene Symbol:DKC1
Accession:NM_001363
Location:INTRON

Gene Symbol:DKC1
Accession:NR_110021
Location:INTRON;NON-CODING

Gene Symbol:DKC1
Accession:NR_110023
Location:INTRON;NON-CODING

Gene Symbol:DKC1
Accession:NR_110022
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002539954 CLINVAR
  RCV003948163 CLINVAR
dbSNP (RS) rs781880461 CLINVAR
MedGen C0265965 CLINVAR
NCBI Gene DKC1 CLINVAR
OMIM 300126 CLINVAR
SNOMED CT 74911008 CLINVAR