RGD:126774495 Rat Genome Database

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Variant: RGD:126774495 -  Homo sapiens

RGD ID: 126774495
RS ID: rs773930349
ClinVar ID: CV1029262
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEP78  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 80,866,823
GRCh38 9 78,251,907
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330691.3:c.1070-1G>A
NM_001330693.3:c.1070-1G>A
NM_001330694.2:c.1070-1G>A
NM_001349838.2:c.1070-1G>A
More... 		07/30/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CEP78
Accession:NM_001349840
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 358
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIDSVKLRRDSAADFFSHYEYLCALQNSVPLPAVRACLREGVLDFNADRLRGVDWAPLLSTLKINKDLPLVSIKSFFQPW
LGDTGSDMNKFCRSRVPAIRYKDVTFQLCKALKGCLSISSVLKNLELNGLILRERDLTILAKGLNKSASLVHLSLANCPI
GDGGLEIICQGIKSSITLKTVNFTGCNLTWQGADHMAKILKYQTMRRHEETWAESLRYRRPDLDCMAGLRRITLNCNTLI
GDLGACAFADSLSEDLWLRALDLQQCGLTNEGAKALLEALETNTTLVVLDIRKNPLIDHSMMKAVIKKVLQNGRSAKSEY
QWITSPSVKEPSKTAKQKRRTIILGSGHKGKATIRIVRLATKKPVSSGRKHSLGKEYYAPAPLPPGVSGFLPWRTAERAK
RHRGFPLIKTRDICNQLQQPGFPVTVTVESPSSSEVEEVDDSSESVHEVPEKTSIEQEALQEKLEECLKQLKEERVIRLK
VDKRVSELEHENAQLRNINFSLSEALHAQSLTNMILDDEGVLGSIENSFQKFHAFLDLLKDAGLGQLATMAGIDQSDFQL
LGHPQMTSTVSNPPKEEKKALEDEKPEPKQNALGQMQNIQFQKITGDARIPLPLDSFPVPVSTPEGLGTSSNNLGVPATE
QRQESFEGFIARMCSPSPDATSGTGSQRKEEELSRNSRSSSEKKTKTESH*

Gene Symbol:CEP78
Accession:NM_001349839
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 358
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIDSVKLRRDSAADFFSHYEYLCALQNSVPLPAVRACLREGVLDFNADRLRGVDWAPLLSTLKINKDLPLVSIKSFFQPW
LGDTGSDMNKFCRSRVPAIRYKDVTFQLCKALKGCLSISSVLKNLELNGLILRERDLTILAKGLNKSASLVHLSLANCPI
GDGGLEIICQGIKSSITLKTVNFTGCNLTWQGADHMAKILKYQTMRRHEETWAESLRYRRPDLDCMAGLRRITLNCNTLI
GDLGACAFADSLSEDLWLRALDLQQCGLTNEGAKALLEALETNTTLVVLDIRKNPLIDHSMMKAVIKKVLQNGRSAKSEY
QWITSPSVKEPSKTAKQKRRTIILGSGHKGKATIRIVRLATKKPVSSGRKHSLGKEYYAPAPLPPGVSGFLPWRTAERAK
RHRGFPLIKTRDICNQLQQPGFPVTVTVESPSSSEVEEVDDSSESVHEVPEKTSIEQEALQEKLEECLKQLKEERVIRLK
VDKRVSELEHENAQLRNINFSLSEALHAQSLTNMILDDEGVLGSIENSFQKFHAFLDLLKDAGLGQLATMAGIDQSDFQL
LGHPQMTSTVSNPPKEEKKALEDEKPEPKQNALGQMQNIQVSICMQSAYNEGTLMKFQKITGDARIPLPLDSFPVPVSTP
EGLGTSSNNLGVPATEQRQESFEGFIARMCSPSPDATSGTGSQRKEEELSRNSRSSSEKKTKTESH*

Gene Symbol:CEP78
Accession:NM_032171
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 358
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIDSVKLRRDSAADFFSHYEYLCALQNSVPLPAVRACLREGVLDFNADRLRGVDWAPLLSTLKINKDLPLVSIKSFFQPW
LGDTGSDMNKFCRSRVPAIRYKDVTFQLCKALKGCLSISSVLKNLELNGLILRERDLTILAKGLNKSASLVHLSLANCPI
GDGGLEIICQGIKSSITLKTVNFTGCNLTWQGADHMAKILKYQTMRRHEETWAESLRYRRPDLDCMAGLRRITLNCNTLI
GDLGACAFADSLSEDLWLRALDLQQCGLTNEGAKALLEALETNTTLVVLDIRKNPLIDHSMMKAVIKKVLQNGRSAKSEY
QWITSPSVKEPSKTAKQKRRTIILGSGHKGKATIRIVRLATKKPVSSGRKHSLGKEYYAPAPLPPGVSGFLPWRTAERAK
RHRGFPLIKTRDICNQLQQPGFPVTVTVESPSSSEVEEVDDSSESVHEVPEKTSIEQEALQEKLEECLKQLKEERVIRLK
VDKRVSELEHENAQLRNINFSLSEALHAQSLTNMILDDEGVLGSIENSFQKFHAFLDLLKDAGLGQLATMAGIDQSDFQL
LGHPQMTSTVSNPPKEEKKALEDEKPEPKQNALGQMQNIQFQKITGDARIPLPLDSFPVPVSTPEGLGTSSNNLGVPATE
QRQESFEGFIARMCSPSPDATSGTGSQRKEEELSRNSRSSSEKKTKTGEYTKKHSDKQHPGKDLHS*

Gene Symbol:CEP78
Accession:NM_001098802
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 358
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIDSVKLRRDSAADFFSHYEYLCALQNSVPLPAVRACLREGVLDFNADRLRGVDWAPLLSTLKINKDLPLVSIKSFFQPW
LGDTGSDMNKFCRSRVPAIRYKDVTFQLCKALKGCLSISSVLKNLELNGLILRERDLTILAKGLNKSASLVHLSLANCPI
GDGGLEIICQGIKSSITLKTVNFTGCNLTWQGADHMAKILKYQTMRRHEETWAESLRYRRPDLDCMAGLRRITLNCNTLI
GDLGACAFADSLSEDLWLRALDLQQCGLTNEGAKALLEALETNTTLVVLDIRKNPLIDHSMMKAVIKKVLQNGRSAKSEY
QWITSPSVKEPSKTAKQKRRTIILGSGHKGKATIRIVRLATKKPVSSGRKHSLGKEYYAPAPLPPGVSGFLPWRTAERAK
RHRGFPLIKTRDICNQLQQPGFPVTVTVESPSSSEVEEVDDSSESVHEVPEKTSIEQEALQEKLEECLKQLKEERVIRLK
VDKRVSELEHENAQLRNINFSLSEALHAQSLTNMILDDEGVLGSIENSFQKFHAFLDLLKDAGLGQLATMAGIDQSDFQL
LGHPQMTSTVSNPPKEEKKALEDEKPEPKQNALGQMQNIQVSICMQSAYNEGTLMKFQKITGDARIPLPLDSFPVPVSTP
EGLGTSSNNLGVPATEQRQESFEGFIARMCSPSPDATSGTGSQRKEEELSRNSRSSSEKKTKTGEYTKKHSDKQHPGKDL
HS*

Gene Symbol:CEP78
Accession:NM_001330691
Location:INTRON

Gene Symbol:CEP78
Accession:NM_001349838
Location:INTRON

Gene Symbol:CEP78
Accession:NM_001330694
Location:INTRON

Gene Symbol:CEP78
Accession:XM_047423955
Location:INTRON

Gene Symbol:CEP78
Accession:NM_001330693
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001347290 CLINVAR
dbSNP (RS) rs773930349 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CEP78 CLINVAR
OMIM 617110 CLINVAR