RGD:26904021 Rat Genome Database

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Variant: RGD:26904021 -  Homo sapiens

RGD ID: 26904021
RS ID: rs2047686233
ClinVar ID: CV848880
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFAP410  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 45,753,108
GRCh38 21 44,333,225
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001271440.2:c.181T>G
NM_001271441.2:c.181T>G
NM_004928.3:c.181T>G
NM_001271442.1:c.58T>G
More... 		01/02/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CFAP410
Accession:XM_047440986
Location:5UTRS;EXON

Gene Symbol:CFAP410
Accession:XM_047440984
Location:5UTRS;EXON

Gene Symbol:CFAP410
Accession:XM_047440985
Location:5UTRS;EXON

Gene Symbol:CFAP410
Accession:XM_047440987
Location:5UTRS;EXON

Gene Symbol:CFAP410
Accession:XM_047440982
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRGQRLSELYLRRNRIPSLAEL
FYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCT
LSSLSSAAETGRDPLDSEEEATSGAQDERGLKPPSRGQFPSLSARDASSSHRGRVSGGPLGAAAASAHCTHCTETVGREH
GASQGPVGREHGASQGLEELCPRGSCVCGSVNAHTRVTRAPHGAVLAPQPLLLSWSVECGPGPCWAEGNRSHVEEVPHTR
PQAGLLCSDSPSVPNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE*

Gene Symbol:CFAP410
Accession:XM_047440980
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSLTEPRKTRSFQKREPGVEACKISRVPWGLSRVTAPCQLASPCRRVWGSARADASSQGCPQTAQRAAASQIVNSISTL
EPVSRGQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRAL
SEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATSGAQDERGLKPPSRGQFPSLSARDASSSHRGRV
SGGPLGAAAASAHCTHCTETVGREHGASQGPVGREHGASQGLEELCPRGSCVCGSVNAHTRVTRAPHGAVLAPQPLLLSW
SVECGPGPCWAEGNRSHVEEVPHTRPQAGLLCSDSPSVPNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHA
E*

Gene Symbol:CFAP410
Accession:NM_001271441
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRGQRLSELYLRRNRIPSLAEL
FYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCT
LSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPSLSARDASSSHRGRVSGGPLGAAAASAHCTHCTETVGREHG
ASQGPVGREHGASQGLEELCPRGSCVCGSVNAHTRVTRAPHGAVLAPQPLLLSWSVECGPGPCWAEGNRSHVEEVPHTRP
QAGLLCSDSPSVPNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE*

Gene Symbol:CFAP410
Accession:XM_047440981
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSLTEPRKTRSFQKREPGVEACKISRVPWGLSRVTAPCQLASPCRRVWGSARADASSQGCPQTAQRAAASQIVNSISTL
EPVSRGQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRAL
SEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPSLSARDASSSHRGRVS
GGPLGAAAASAHCTHCTETVGREHGASQGPVGREHGASQGLEELCPRGSCVCGSVNAHTRVTRAPHGAVLAPQPLLLSWS
VECGPGPCWAEGNRSHVEEVPHTRPQAGLLCSDSPSVPNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE
*

Gene Symbol:CFAP410
Accession:NM_001271440
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRGQRLSELYLRRNRIPSLAEL
FYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCT
LSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPSLSARDASSSHRGRNVLTAILLLLRELDAEGLEAVQQTVGS
RLQALRGEEVQEHAE*

Gene Symbol:CFAP410
Accession:XM_047440983
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSLTEPRKTRSFQKREPGVEACKISRVPWGLSRVTAPCQLASPCRRVWGSARADASSQGCPQTAQRAAASQIVNSISTL
EPVSRGQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRAL
SEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPSLSARDASSSHRGRNV
LTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE*

Gene Symbol:CFAP410
Accession:XM_006724051
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSLTEPRKTRSFQKREPGVEACKISRVPWGLSRVTAPCQLASPCRRVWGSARADASSQGCPQTAQRAAASQIVNSISTL
EPVSRGQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRAL
SEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATSGAQDERGLKPPSRGQFPSLSARDASSSHRGRN
VLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE*

Gene Symbol:CFAP410
Accession:NM_004928
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRGQRLSELYLRRNRIPSLAEL
FYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCT
LSSLSSAAETGRDPLDSEEEATSGAQDERGLKPPSRGQFPSLSARDASSSHRGRNVLTAILLLLRELDAEGLEAVQQTVG
SRLQALRGEEVQEHAE*

Gene Symbol:CFAP410
Accession:NM_001271442
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 20
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSLEVITLSISTLEPVSRGQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKL
DNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPSL
SARDASSSHRGRNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001070172 CLINVAR
dbSNP (RS) rs2047686233 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CFAP410 CLINVAR
OMIM 603191 CLINVAR