RGD:150422386 Rat Genome Database

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Variant: RGD:150422386 -  Homo sapiens

RGD ID: 150422386
RS ID: rs138214047
ClinVar ID: CV1180152
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GTF2H4  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 30,881,799
GRCh38 6 30,914,022
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001517.5:c.*39T>A
NG_034224.1:g.4815T>A
NC_000006.12:g.30914022T>A
NC_000006.11:g.30881799T>A
 09/11/2018 3 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GTF2H4
Accession:NM_001517
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001552564 CLINVAR
dbSNP (RS) rs138214047 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GTF2H4 CLINVAR
  VARS2 CLINVAR
OMIM 601760 CLINVAR
  612802 CLINVAR