RGD:38495550 Rat Genome Database

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Variant: RGD:38495550 -  Homo sapiens

RGD ID: 38495550
RS ID: rs2071741038
ClinVar ID: CV960371
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DKC1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 153,994,279
GRCh38 X 154,766,004
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142463.3:c.263+6T>C
NM_001363.5:c.263+6T>C
LRG_55:g.8249T>C
NG_009780.1:g.8249T>C
More... 		11/04/2019 intron variant uncertain significance
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_110022
Location:INTRON;NON-CODING

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

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

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001225788 CLINVAR
dbSNP (RS) rs2071741038 CLINVAR
MedGen C0265965 CLINVAR
NCBI Gene DKC1 CLINVAR
OMIM 300126 CLINVAR
SNOMED CT 74911008 CLINVAR