RGD:150555814 Rat Genome Database

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Variant: RGD:150555814 -  Homo sapiens

RGD ID: 150555814
RS ID: rs373891229
ClinVar ID: CV1305299
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COQ8B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 41,220,209
GRCh38 19 40,714,304
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142555.3:c.196C>T
NM_024876.4:c.196C>T
NG_012970.1:g.2202G>A
NG_027800.1:g.7582C>T
More...
08/14/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:COQ8B
Accession:NM_024876
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 66
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLKVGGLLRGTGGQLGQTVGWPCGALGPGPHRWGPCGGSWAQKFYQDGPGRGLGEEDIRRAREACPRKTPRPQLSDRSR
ERKVPASRISRLANFGGLAVGLGLGVLAEMAKKSMPGGRLQSEGGSGLDSSPFLSEANAERIVQTLCTVRGAALKVGQML
SIQDNSFISPQLQHIFERVRQSADFMPRWQMLRVLEEELGRDWQAKVASLEEVPFAAASIGQVHQGLLRDGTEVAVKIQY
PGIAQSIQSDVQNLLAVLKMSAALPAGLFAEQSLQALQQELAWECDYRREAACAQNFRQLLANDPFFRVPAVVKELCTTR
VLGMELAGGVPLDQCQGLSQDLRNQICFQLLTLCLRELFEFRFMQTDPNWANFLYDASSHQVTLLDFGASREFGTEFTDH
YIEVVKAAADGDRDCVLQKSRDLKFLTGFETKAFSDAHVEAVMILGEPFATQGPYDFGSGETARRIQDLIPVLLRHRLCP
PPEETYALHRKLAGAFLACAHLRAHIACRDLFQDTYHRYWASRQPDAATAGSLPTKGDSWVDPS*

Gene Symbol:COQ8B
Accession:NM_001142555
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 66
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWLKVGGLLRGTGGQLGQTVGWPCGALGPGPHRWGPCGGSWAQKFYQDGPGRGLGEEDIRRAREACPRKTPRPQLSDRSR
ERKVPASRISRLANFGGLAVGLGLGVLAEMAKKSMPGGRLQSDNSFISPQLQHIFERVRQSADFMPRWQMLRVLEEELGR
DWQAKVASLEEVPFAAASIGQVHQGLLRDGTEVAVKIQYPGIAQSIQSDVQNLLAVLKMSAALPAGLFAEQSLQALQQEL
AWECDYRREAACAQNFRQLLANDPFFRVPAVVKELCTTRVLGMELAGGVPLDQCQGLSQDLRNQICFQLLTLCLRELFEF
RFMQTDPNWANFLYDASSHQVTLLDFGASREFGTEFTDHYIEVVKAAADGDRDCVLQKSRDLKFLTGFETKAFSDAHVEA
VMILGEPFATQGPYDFGSGETARRIQDLIPVLLRHRLCPPPEETYALHRKLAGAFLACAHLRAHIACRDLFQDTYHRYWA
SRQPDAATAGSLPTKGDSWVDPS*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001773232 CLINVAR
dbSNP (RS) rs373891229 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COQ8B CLINVAR
OMIM 615567 CLINVAR