RGD:156079716 Rat Genome Database

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Variant: RGD:156079716 -  Homo sapiens

RGD ID: 156079716
ClinVar ID: CV2226567
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EVX1  EVX1-AS  LOC127408738  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 27,282,836
GRCh38 7 27,243,217
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001304519.2:c.-305G>A
NM_001304520.2:c.-357G>A
NM_001989.5:c.187G>A
NG_110704.1:g.898G>A
More... 		08/12/2021 5 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EVX1
Accession:NM_001304520
Location:5UTRS;EXON

Gene Symbol:EVX1
Accession:NM_001304519
Location:5UTRS;EXON

Gene Symbol:EVX1
Accession:NM_001989
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESRKDMVVFLDGGQLGTLVGKRVSNLSEAVGSPLPEPPEKMVPRGCLSPRAVPPATRERGGRGPEEEPVDGLAGSAAGP
GAEPQVAGAAMLGPGPPAPSVDSLSGQGQPSSSDTESDFYEEIEVSCTPDCATGNAEYQHSKGSGSEALVGSPNGGSETP
KSNGGSGGGGSQGTLACSASDQMRRYRTAFTREQIARLEKEFYRENYVSRPRRCELAAALNLPETTIKVWFQNRRMKDKR
QRLAMTWPHPADPAFYTYMMSHAAAAGGLPYPFPSHLPLPYYSPVGLGAASAASAAASPFSGSLRPLDTFRVLSQPYPRP
ELLCAFRHPPLYPGPAHGLGASAGGPCSCLACHSGPANGLAPRAAAASDFTCASTSRSDSFLTFAPSVLSKASSVALDQR
EEVPLTR*

Gene Symbol:EVX1-AS
Accession:NR_120507
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002737843 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene EVX1 CLINVAR
  EVX1-AS CLINVAR
OMIM 142996 CLINVAR