RGD:151861319 Rat Genome Database

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Variant: RGD:151861319 -  Homo sapiens

RGD ID: 151861319
RS ID: rs956068957
ClinVar ID: CV1369314
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GTF2H5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 158,613,095
GRCh38 6 158,192,063
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_469:g.28717C>T
NG_011758.1:g.28717C>T
NC_000006.12:g.158192063C>T
NC_000006.11:g.158613095C>T
More... 		09/24/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GTF2H5
Accession:NM_207118
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 41
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNVLKGVLIECDPAMKQFLLYLDESNALGKKFIIQDIDDIHVFVIAELVNVLQERVGELMDQNAFSLTQK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002034393 CLINVAR
dbSNP (RS) rs956068957 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GTF2H5 CLINVAR
OMIM 608780 CLINVAR