RGD:12897554 Rat Genome Database

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Variant: RGD:12897554 -  Homo sapiens

RGD ID: 12897554
RS ID: rs367685430
ClinVar ID: CV391316
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MIR6735  SZT2  SZT2-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 43,914,274
GRCh38 1 43,448,603
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029091.1:g.63719C>T
NC_000001.11:g.43448603C>T
NC_000001.10:g.43914274C>T
NM_015284.4:c.9799-9C>T
More... 		08/31/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SZT2-AS1
Accession:NR_046744
Location:EXON;NON-CODING

Gene Symbol:MIR6735
Accession:NR_106793
Location:EXON;NON-CODING

Gene Symbol:SZT2
Accession:NM_001365999
Location:INTRON

Gene Symbol:SZT2
Accession:NM_015284
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000464156 CLINVAR
dbSNP (RS) rs367685430 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MIR6735 CLINVAR
  SZT2 CLINVAR
  SZT2-AS1 CLINVAR
OMIM 615463 CLINVAR