RGD:13462302 Rat Genome Database

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Variant: RGD:13462302 -  Homo sapiens

RGD ID: 13462302
RS ID: rs111686948
ClinVar ID: CV438942
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HYI  LOC127268941  SZT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 43,917,601
GRCh38 1 43,451,930
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.67046C>T
NC_000001.10:g.43917601C>T
NC_000001.11:g.43451930C>T
NM_001330526.2:c.580+5G>A
More... 		08/08/2017 3 prime utr variant|intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SZT2
Accession:NM_015284
Location:3UTRS;EXON

Gene Symbol:SZT2
Accession:NM_001365999
Location:3UTRS;EXON

Gene Symbol:HYI
Accession:NM_001190880
Location:INTRON

Gene Symbol:HYI
Accession:NM_031207
Location:INTRON

Gene Symbol:HYI
Accession:NM_001243526
Location:INTRON

Gene Symbol:HYI
Accession:XM_006710937
Location:INTRON

Gene Symbol:HYI
Accession:NM_001330526
Location:INTRON

Gene Symbol:HYI
Accession:XM_047431340
Location:INTRON

Gene Symbol:HYI
Accession:XM_047431342
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000513965 CLINVAR
dbSNP (RS) rs111686948 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HYI CLINVAR
  SZT2 CLINVAR
OMIM 615463 CLINVAR
  619128 CLINVAR