RGD:13434936 Rat Genome Database

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Variant: RGD:13434936 -  Homo sapiens

RGD ID: 13434936
RS ID: rs567435284
ClinVar ID: CV431812
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CFAP410  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 45,753,020
GRCh38 21 44,333,137
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001271441.1:c.269G>C
NP_001258371.1:p.Arg49Pro
NP_001258369.1:p.Arg90Pro
NG_032952.1:g.11266G>C
More... 		03/14/2022 missense variant likely pathogenic|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CFAP410
Accession:XM_047440985
Location:5UTRS;EXON

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

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

Gene Symbol:CFAP410
Accession:XM_047440986
Location:5UTRS;EXON

Gene Symbol:CFAP410
Accession:XM_047440983
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSLTEPRKTRSFQKREPGVEACKISRVPWGLSRVTAPCQLASPCRRVWGSARADASSQGCPQTAQRAAASQIVNSISTL
EPVSRCQRLSELYLRRNRIPSLAELFYLKGLPRLPVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRAL
SEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPSLSARDASSSHRGRNV
LTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE*

Gene Symbol:CFAP410
Accession:XM_047440981
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSLTEPRKTRSFQKREPGVEACKISRVPWGLSRVTAPCQLASPCRRVWGSARADASSQGCPQTAQRAAASQIVNSISTL
EPVSRCQRLSELYLRRNRIPSLAELFYLKGLPRLPVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRAL
SEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPSLSARDASSSHRGRVS
GGPLGAAAASAHCTHCTETVGREHGASQGPVGREHGASQGLEELCPRGSCVCGSVNAHTRVTRAPHGAVLAPQPLLLSWS
VECGPGPCWAEGNRSHVEEVPHTRPQAGLLCSDSPSVPNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE
*

Gene Symbol:CFAP410
Accession:NM_001271440
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRCQRLSELYLRRNRIPSLAEL
FYLKGLPRLPVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCT
LSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPSLSARDASSSHRGRNVLTAILLLLRELDAEGLEAVQQTVGS
RLQALRGEEVQEHAE*

Gene Symbol:CFAP410
Accession:XM_047440982
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRCQRLSELYLRRNRIPSLAEL
FYLKGLPRLPVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCT
LSSLSSAAETGRDPLDSEEEATSGAQDERGLKPPSRGQFPSLSARDASSSHRGRVSGGPLGAAAASAHCTHCTETVGREH
GASQGPVGREHGASQGLEELCPRGSCVCGSVNAHTRVTRAPHGAVLAPQPLLLSWSVECGPGPCWAEGNRSHVEEVPHTR
PQAGLLCSDSPSVPNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE*

Gene Symbol:CFAP410
Accession:NM_004928
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRCQRLSELYLRRNRIPSLAEL
FYLKGLPRLPVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCT
LSSLSSAAETGRDPLDSEEEATSGAQDERGLKPPSRGQFPSLSARDASSSHRGRNVLTAILLLLRELDAEGLEAVQQTVG
SRLQALRGEEVQEHAE*

Gene Symbol:CFAP410
Accession:NM_001271441
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRCQRLSELYLRRNRIPSLAEL
FYLKGLPRLPVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCT
LSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPSLSARDASSSHRGRVSGGPLGAAAASAHCTHCTETVGREHG
ASQGPVGREHGASQGLEELCPRGSCVCGSVNAHTRVTRAPHGAVLAPQPLLLSWSVECGPGPCWAEGNRSHVEEVPHTRP
QAGLLCSDSPSVPNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE*

Gene Symbol:CFAP410
Accession:XM_047440980
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSLTEPRKTRSFQKREPGVEACKISRVPWGLSRVTAPCQLASPCRRVWGSARADASSQGCPQTAQRAAASQIVNSISTL
EPVSRCQRLSELYLRRNRIPSLAELFYLKGLPRLPVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRAL
SEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATSGAQDERGLKPPSRGQFPSLSARDASSSHRGRV
SGGPLGAAAASAHCTHCTETVGREHGASQGPVGREHGASQGLEELCPRGSCVCGSVNAHTRVTRAPHGAVLAPQPLLLSW
SVECGPGPCWAEGNRSHVEEVPHTRPQAGLLCSDSPSVPNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHA
E*

Gene Symbol:CFAP410
Accession:NM_001271442
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSLEVITLSISTLEPVSRCQRLSELYLRRNRIPSLAELFYLKGLPRLPVLWLAENPCCGTSPHRYRMTVLRTLPRLQKL
DNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPSL
SARDASSSHRGRNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE*

Gene Symbol:CFAP410
Accession:XM_006724051
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSLTEPRKTRSFQKREPGVEACKISRVPWGLSRVTAPCQLASPCRRVWGSARADASSQGCPQTAQRAAASQIVNSISTL
EPVSRCQRLSELYLRRNRIPSLAELFYLKGLPRLPVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLDNQAVTEEELSRAL
SEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATSGAQDERGLKPPSRGQFPSLSARDASSSHRGRN
VLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE*
Variant Samples
Additional References at PubMed
PMID:28041643   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000504624 CLINVAR
  RCV002289689 CLINVAR
dbSNP (RS) rs567435284 CLINVAR
MedGen C0854723 CLINVAR
  C3661900 CLINVAR
NCBI Gene C21orf2 CLINVAR
OMIM 603191 CLINVAR
SNOMED CT 314407005 CLINVAR