RGD:155947234 Rat Genome Database

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Variant: RGD:155947234 -  Homo sapiens

RGD ID: 155947234
ClinVar ID: CV2029020
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNA2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 70,182,185
GRCh38 10 68,422,428
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001080449.3:c.2494A>G
NG_034247.1:g.54546A>G
NC_000010.11:g.68422428T>C
NC_000010.10:g.70182185T>C
More... 		10/14/2023 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DNA2
Accession:XM_006717680
Location:EXON

Gene Symbol:DNA2
Accession:XM_011539417
Location:EXON

Gene Symbol:DNA2
Accession:XM_017015799
Location:EXON

Gene Symbol:DNA2
Accession:NM_001080449
Location:EXON

Gene Symbol:DNA2
Accession:NR_102264
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002730475 CLINVAR
  RCV002760371 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene DNA2 CLINVAR
OMIM 601810 CLINVAR