RGD:401877196 Rat Genome Database

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Variant: RGD:401877196 -  Homo sapiens

RGD ID: 401877196
ClinVar ID: CV2764537
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CIAO2A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 64,381,033
GRCh38 15 64,088,834
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001014812.3:c.142C>T
NM_001289108.2:c.142C>T
NM_032231.7:c.142C>T
NC_000015.10:g.64088834G>A
More... 		08/22/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CIAO2A
Accession:NM_001289108
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRVSGLLSWTLSRVLWLSGLSEPGAARQPRIMEEKALEVYDLIRTIWDPEKPNTLEELEVVSESCVEVQEINEEEYLVI
IRFTPTVPHCSLATLIVGNLHF*

Gene Symbol:CIAO2A
Accession:NM_001014812
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRVSGLLSWTLSRVLWLSGLSEPGAARQPRIMEEKALEVYDLIRTIWDPEKPNTLEELEVVSESCVEVQEINEEEYLVI
IRFTPTVPHCSLATLIVGNLHF*

Gene Symbol:CIAO2A
Accession:NM_032231
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQRVSGLLSWTLSRVLWLSGLSEPGAARQPRIMEEKALEVYDLIRTIWDPEKPNTLEELEVVSESCVEVQEINEEEYLVI
IRFTPTVPHCSLATLIGLCLRVKLQRCLPFKHKLEIYISEGTHSTEEDINKQINDKERVAAAMENPNLREIVEQCVLEPD
*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004339092 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CIAO2A CLINVAR
OMIM 618382 CLINVAR