RGD:152152457 Rat Genome Database

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Variant: RGD:152152457 -  Homo sapiens

RGD ID: 152152457
RS ID: rs367800002
ClinVar ID: CV1565233
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GTF2H5  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 158,613,033
GRCh38 6 158,192,001
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.60G>T
LRG_469:g.28655G>T
NG_011758.1:g.28655G>T
NC_000006.12:g.158192001G>T
More... 		10/13/2021 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GTF2H5
Accession:NM_207118
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNVLKGVLIECDPAMKQFLLYLDESNALGKKFIIQDIDDTHVFVIAELVNVLQERVGELMDQNAFSLTQK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002102439 CLINVAR
dbSNP (RS) rs367800002 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GTF2H5 CLINVAR
OMIM 608780 CLINVAR