RGD:329384215 Rat Genome Database

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Variant: RGD:329384215 -  Homo sapiens

RGD ID: 329384215
ClinVar ID: CV2434993
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZNF703  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 37,556,142
GRCh38 8 37,698,624
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_025069.3:c.1723G>A
NC_000008.11:g.37698624G>A
NC_000008.10:g.37556142G>A
NM_025069.1:c.1723G>A
More...
01/26/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZNF703
Accession:NM_025069
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 575
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDSPAGSNPRTPESSGSGSGGGGKRPAVPAAVSLLPPADPLRQANRLPIRVLKMLSAHTGHLLHPEYLQPLSSTPVSPI
ELDAKKSPLALLAQTCSQIGKPDPPPSSKLNSVAAAANGLGAEKDPGRSAPGAASAAAALKQLGDSPAEDKSSFKPYSKG
SGGGDSRKDSGSSSVSSTSSSSSSSPGDKAGFRVPSAACPPFPPHGAPVSASSSSSSPGGSRGGSPHHSDCKNGGGVGGG
ELDKKDQEPKPSPEPAAVSRGGGGEPGAHGGAESGASGRKSEPPSALVGAGHVAPVSPYKPGHSVFPLPPSSIGYHGSIV
GAYAGYPSQFVPGLDPSKSGLVGGQLSGGLGLPPGKPPSSSPLTGASPPSFLQGLCRDPYCLGGYHGASHLGGSSCSTCS
AHDPAGPSLKAGGYPLVYPGHPLQPAALSSSAAQAALPGHPLYTYGFMLQNEPLPHSCNWVAASGPCDKRFATSEELLSH
LRTHTALPGAEKLLAAYPGASGLGSAAAAAAAAASCHLHLPPPAAPGSPGSLSLRNPHTLGLSRYHPYGKSHLSTAGGLA
VPSLPTAGPYYSPYTLYGQRLASASALGYQ*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003188981 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ZNF703 CLINVAR
OMIM 617045 CLINVAR