RGD:405673132 Rat Genome Database

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Variant: RGD:405673132 -  Homo sapiens

RGD ID: 405673132
ClinVar ID: CV3293652
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIAO2A  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 64,365,161
GRCh38 15 64,072,962
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001289108.2:c.*2556T>C
NM_001014812.3:c.*93T>C
NM_032231.7:c.452T>C
NC_000015.10:g.64072962A>G
More... 		10/26/2022 3 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CIAO2A
Accession:NM_001014812
Location:3UTRS;EXON

Gene Symbol:CIAO2A
Accession:NM_001289108
Location:3UTRS;EXON

Gene Symbol:CIAO2A
Accession:NM_032231
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRVSGLLSWTLSRVLWLSGLSEPGAARQPRIMEEKALEVYDLIRTIRDPEKPNTLEELEVVSESCVEVQEINEEEYLVI
IRFTPTVPHCSLATLIGLCLRVKLQRCLPFKHKLEIYISEGTHSTEEDINKQINDKERVAAAMENPNLRETVEQCVLEPD
*

Gene Symbol:CIAO2A
Accession:NR_110310
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004441728 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CIAO2A CLINVAR
OMIM 618382 CLINVAR