RGD:151834577 Rat Genome Database

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Variant: RGD:151834577 -  Homo sapiens

RGD ID: 151834577
RS ID: rs369104295
ClinVar ID: CV1429115
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GTF2H5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 158,613,167
GRCh38 6 158,192,135
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_207118.3:c.194C>T
LRG_469:g.28789C>T
NG_011758.1:g.28789C>T
NC_000006.12:g.158192135C>T
More... 		11/02/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GTF2H5
Accession:NM_207118
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNVLKGVLIECDPAMKQFLLYLDESNALGKKFIIQDIDDTHVFVIAELVNVLQERVGELMDQNVFSLTQK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001994054 CLINVAR
dbSNP (RS) rs369104295 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GTF2H5 CLINVAR
OMIM 608780 CLINVAR