RGD:15171630 Rat Genome Database

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Variant: RGD:15171630 -  Homo sapiens

RGD ID: 15171630
RS ID: rs61729128
ClinVar ID: CV709263
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFAP97  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 186,084,055
GRCh38 4 185,162,901
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_020827.3:c.1496C>T
NC_000004.12:g.185162901G>A
NC_000004.11:g.186084055G>A
NM_020827.2:c.1496C>T
More... 		04/17/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CFAP97
Accession:XM_017008484
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 499
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQFGDILEGEVDHSFFDSDFEEGKKCETNSVFDKQNDDPKERIDKDTKNVNSNTGMQTTENYLTEKGNERNVKFPPEHP
VENDVTQTVSSFSLPASSRSKKLCDVTTGLKIHVSIPNRIPKIVKEGEDDYYTDGEESSDDGKKYHVKSKSAKPSTNVKK
SIRKKYCKVSSSSSSSLSSSSSGSGTDCLDAGSDSHLSDSSPSSKSSKKHVSGITLLSPKHKYKSGIKSTETQPSSTTPK
CGHYPEESEDTVTDVSPLSTPDISPLQSFELGIANDQKVKIKKQENVSQEIYEDVEDLKNNSKYLKAAKKGKEKHEPDVS
SKSSSVLDSSLDHRHKQKVLHDTMDLNHLLKAFLQLDKKGPQKHHFDQPSVAPGKNYSFTREEVRQIDRENQRLLKELSR
QAEKPGSKSTIPRSADHPPKLYHSALNRQKEQQRIERENLALLKRLEAVKPTVGMKRSEQLMDYHRNMGYLNSSPLSRRA
RSTLGQYSPLRASRTSSAMSGLSCRSERSAVDPSSGHPRRRPKPPNVRTAWL*

Gene Symbol:CFAP97
Accession:XM_017008483
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 499
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQFGDILEGEVDHSFFDSDFEEGKKCETNSVFDKQNDDPKERIDKDTKNVNSNTGMQTTENYLTEKGNERNVKFPPEHP
VENDVTQTVSSFSLPASSRSKKLCDVTTGLKIHVSIPNRIPKIVKEGEDDYYTDGEESSDDGKKYHVKSKSAKPSTNVKK
SIRKKYCKVSSSSSSSLSSSSSGSGTDCLDAGSDSHLSDSSPSSKSSKKHVSGITLLSPKHKYKSGIKSTETQPSSTTPK
CGHYPEESEDTVTDVSPLSTPDISPLQSFELGIANDQKVKIKKQENVSQEIYEDVEDLKNNSKYLKAAKKGKEKHEPDVS
SKSSSVLDSSLDHRHKQKVLHDTMDLNHLLKAFLQLDKKGPQKHHFDQPSVAPGKNYSFTREEVRQIDRENQRLLKELSR
QAEKPGSKSTIPRSADHPPKLYHSALNRQKEQQRIERENLALLKRLEAVKPTVGMKRSEQLMDYHRNMGYLNSSPLSRRA
RSTLGQYSPLRASRTSSAMSGLSCRSERSAVDPSSGHPRRRPKPPNVRTAWL*

Gene Symbol:CFAP97
Accession:XM_047416015
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 499
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQFGDILEGEVDHSFFDSDFEEGKKCETNSVFDKQNDDPKERIDKDTKNVNSNTGMQTTENYLTEKGNERNVKFPPEHP
VENDVTQTVSSFSLPASSRSKKLCDVTTGLKIHVSIPNRIPKIVKEGEDDYYTDGEESSDDGKKYHVKSKSAKPSTNVKK
SIRKKYCKVSSSSSSSLSSSSSGSGTDCLDAGSDSHLSDSSPSSKSSKKHVSGITLLSPKHKYKSGIKSTETQPSSTTPK
CGHYPEESEDTVTDVSPLSTPDISPLQSFELGIANDQKVKIKKQENVSQEIYEDVEDLKNNSKYLKAAKKGKEKHEPDVS
SKSSSVLDSSLDHRHKQKVLHDTMDLNHLLKAFLQLDKKGPQKHHFDQPSVAPGKNYSFTREEVRQIDRENQRLLKELSR
QAEKPGSKSTIPRSADHPPKLYHSALNRQKEQQRIERENLALLKRLEAVKPTVGMKRSEQLMDYHRNMGYLNSSPLSRRA
RSTLGQYSPLRASRTSSAMSGLSCRSERSAVDPSSGHPRRRPKPPNVRTAWL*

Gene Symbol:CFAP97
Accession:NM_020827
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 499
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQFGDILEGEVDHSFFDSDFEEGKKCETNSVFDKQNDDPKERIDKDTKNVNSNTGMQTTENYLTEKGNERNVKFPPEHP
VENDVTQTVSSFSLPASSRSKKLCDVTTGLKIHVSIPNRIPKIVKEGEDDYYTDGEESSDDGKKYHVKSKSAKPSTNVKK
SIRKKYCKVSSSSSSSLSSSSSGSGTDCLDAGSDSHLSDSSPSSKSSKKHVSGITLLSPKHKYKSGIKSTETQPSSTTPK
CGHYPEESEDTVTDVSPLSTPDISPLQSFELGIANDQKVKIKKQENVSQEIYEDVEDLKNNSKYLKAAKKGKEKHEPDVS
SKSSSVLDSSLDHRHKQKVLHDTMDLNHLLKAFLQLDKKGPQKHHFDQPSVAPGKNYSFTREEVRQIDRENQRLLKELSR
QAEKPGSKSTIPRSADHPPKLYHSALNRQKEQQRIERENLALLKRLEAVKPTVGMKRSEQLMDYHRNMGYLNSSPLSRRA
RSTLGQYSPLRASRTSSAMSGLSCRSERSAVDPSSGHPRRRPKPPNVRTAWL*

Gene Symbol:CFAP97
Accession:XM_047416016
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 499
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQFGDILEGEVDHSFFDSDFEEGKKCETNSVFDKQNDDPKERIDKDTKNVNSNTGMQTTENYLTEKGNERNVKFPPEHP
VENDVTQTVSSFSLPASSRSKKLCDVTTGLKIHVSIPNRIPKIVKEGEDDYYTDGEESSDDGKKYHVKSKSAKPSTNVKK
SIRKKYCKVSSSSSSSLSSSSSGSGTDCLDAGSDSHLSDSSPSSKSSKKHVSGITLLSPKHKYKSGIKSTETQPSSTTPK
CGHYPEESEDTVTDVSPLSTPDISPLQSFELGIANDQKVKIKKQENVSQEIYEDVEDLKNNSKYLKAAKKGKEKHEPDVS
SKSSSVLDSSLDHRHKQKVLHDTMDLNHLLKAFLQLDKKGPQKHHFDQPSVAPGKNYSFTREEVRQIDRENQRLLKELSR
QAEKPGSKSTIPRSADHPPKLYHSALNRQKEQQRIERENLALLKRLEAVKPTVGMKRSEQLMDYHRNMGYLNSSPLSRRA
RSTLGQYSPLRASRTSSAMSGLSCRSERSAVDPSSGHPRRRPKPPNVRTAWL*

Gene Symbol:CFAP97
Accession:XM_017008486
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 499
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQFGDILEGEVDHSFFDSDFEEGKKCETNSVFDKQNDDPKERIDKDTKNVNSNTGMQTTENYLTEKGNERNVKFPPEHP
VENDVTQTVSSFSLPASSRSKKLCDVTTGLKIHVSIPNRIPKIVKEGEDDYYTDGEESSDDGKKYHVKSKSAKPSTNVKK
SIRKKYCKVSSSSSSSLSSSSSGSGTDCLDAGSDSHLSDSSPSSKSSKKHVSGITLLSPKHKYKSGIKSTETQPSSTTPK
CGHYPEESEDTVTDVSPLSTPDISPLQSFELGIANDQKVKIKKQENVSQEIYEDVEDLKNNSKYLKAAKKGKEKHEPDVS
SKSSSVLDSSLDHRHKQKVLHDTMDLNHLLKAFLQLDKKGPQKHHFDQPSVAPGKNYSFTREEVRQIDRENQRLLKELSR
QAEKPGSKSTIPRSADHPPKLYHSALNRQKEQQRIERENLALLKRLEAVKPTVGMKRSEQLMDYHRNMGYLNSSPLSRRA
RSTLGQYSPLRASRTSSAMSGLSCRSERSAVDPSSGHPRRRPKPPNVRTAWL*

Gene Symbol:CFAP97
Accession:NM_001292033
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000972237 CLINVAR
dbSNP (RS) rs61729128 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CFAP97 CLINVAR
OMIM 616047 CLINVAR