RGD:8637693 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:8637693 -  Homo sapiens

RGD ID: 8637693
ClinVar ID: CV92919
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BEX5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 101,409,019
GRCh38 X 102,154,047
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001159560.1:c.219G>A
NM_001012978.2:c.219G>A
NC_000023.11:g.102154047C>T
NC_000023.10:g.101409019C>T
More...
synonymous variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:BEX5
Accession:NM_001159560
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 73
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENVPKENKVVEKAPVQNEAPALGGGEYQEPGGNVKGVWAPPAPGFGEDVPNRLVDNIDMIDGDGDDMERFMEEMRELRR
KIRELQLRYSLRILIGDPPHHDHHDEFCLMP*

Gene Symbol:BEX5
Accession:NM_001012978
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 73
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENVPKENKVVEKAPVQNEAPALGGGEYQEPGGNVKGVWAPPAPGFGEDVPNRLVDNIDMIDGDGDDMERFMEEMRELRR
KIRELQLRYSLRILIGDPPHHDHHDEFCLMP*

Variant Samples