RGD:21404878 Rat Genome Database

Variant: RGD:21404878 - Homo sapiens

RGD ID:

21404878

RS ID:

rs1602079250

ClinVar ID:

CV800625

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CFAP410

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	21	45,752,925
GRCh38	21	44,333,042

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_001258370.1:p.Asp122Asn NP_001258371.1:p.Asp81Asn NC_000021.8:g.45752925C>T NG_032952.1:g.11361G>A More...	08/20/2021	missense variant	likely pathogenic\|uncertain significance	Cone-rod degeneration; Cone/cone-rod dystrophy; none provided

Disease Annotations Click to see Annotation Detail View

cone-rod dystrophy (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Cone/cone-rod dystrophy (IAGP)

Rod-cone dystrophy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	CFAP410
Accession:	NM_001271441
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	122

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRCQRLSELYLRRNRIPSLAEL FYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLNNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCT LSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPSLSARDASSSHRGRVSGGPLGAAAASAHCTHCTETVGREHG ASQGPVGREHGASQGLEELCPRGSCVCGSVNAHTRVTRAPHGAVLAPQPLLLSWSVECGPGPCWAEGNRSHVEEVPHTRP QAGLLCSDSPSVPNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE*

Gene Symbol:	CFAP410
Accession:	XM_047440982
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	122

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRCQRLSELYLRRNRIPSLAEL FYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLNNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCT LSSLSSAAETGRDPLDSEEEATSGAQDERGLKPPSRGQFPSLSARDASSSHRGRVSGGPLGAAAASAHCTHCTETVGREH GASQGPVGREHGASQGLEELCPRGSCVCGSVNAHTRVTRAPHGAVLAPQPLLLSWSVECGPGPCWAEGNRSHVEEVPHTR PQAGLLCSDSPSVPNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE*

Gene Symbol:	CFAP410
Accession:	NM_001271442
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	81

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPSLEVITLSISTLEPVSRCQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKL NNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPSL SARDASSSHRGRNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE*

Gene Symbol:	CFAP410
Accession:	NM_001271440
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	122

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRCQRLSELYLRRNRIPSLAEL FYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLNNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCT LSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPSLSARDASSSHRGRNVLTAILLLLRELDAEGLEAVQQTVGS RLQALRGEEVQEHAE*

Gene Symbol:	CFAP410
Accession:	XM_047440981
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	147

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSLTEPRKTRSFQKREPGVEACKISRVPWGLSRVTAPCQLASPCRRVWGSARADASSQGCPQTAQRAAASQIVNSISTL EPVSRCQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLNNQAVTEEELSRAL SEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPSLSARDASSSHRGRVS GGPLGAAAASAHCTHCTETVGREHGASQGPVGREHGASQGLEELCPRGSCVCGSVNAHTRVTRAPHGAVLAPQPLLLSWS VECGPGPCWAEGNRSHVEEVPHTRPQAGLLCSDSPSVPNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE *

Gene Symbol:	CFAP410
Accession:	XM_047440980
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	147

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSLTEPRKTRSFQKREPGVEACKISRVPWGLSRVTAPCQLASPCRRVWGSARADASSQGCPQTAQRAAASQIVNSISTL EPVSRCQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLNNQAVTEEELSRAL SEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATSGAQDERGLKPPSRGQFPSLSARDASSSHRGRV SGGPLGAAAASAHCTHCTETVGREHGASQGPVGREHGASQGLEELCPRGSCVCGSVNAHTRVTRAPHGAVLAPQPLLLSW SVECGPGPCWAEGNRSHVEEVPHTRPQAGLLCSDSPSVPNVLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHA E*

Gene Symbol:	CFAP410
Accession:	XM_047440983
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	147

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSLTEPRKTRSFQKREPGVEACKISRVPWGLSRVTAPCQLASPCRRVWGSARADASSQGCPQTAQRAAASQIVNSISTL EPVSRCQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLNNQAVTEEELSRAL SEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATGAQDERGLKPPSRGQFPSLSARDASSSHRGRNV LTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE*

Gene Symbol:	CFAP410
Accession:	XM_047440984
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	14

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTVLRTLPRLQKLNNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATSGAQDE RGLKPPSRGQFPSLSARDASSSHRGRVSGGPLGAAAASAHCTHCTETVGREHGASQGPVGREHGASQGLEELCPRGSCVC GSVNAHTRVTRAPHGAVLAPQPLLLSWSVECGPGPCWAEGNRSHVEEVPHTRPQAGLLCSDSPSVPNVLTAILLLLRELD AEGLEAVQQTVGSRLQALRGEEVQEHAE*

Gene Symbol:	CFAP410
Accession:	XM_006724051
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	147

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSLTEPRKTRSFQKREPGVEACKISRVPWGLSRVTAPCQLASPCRRVWGSARADASSQGCPQTAQRAAASQIVNSISTL EPVSRCQRLSELYLRRNRIPSLAELFYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLNNQAVTEEELSRAL SEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATSGAQDERGLKPPSRGQFPSLSARDASSSHRGRN VLTAILLLLRELDAEGLEAVQQTVGSRLQALRGEEVQEHAE*

Gene Symbol:	CFAP410
Accession:	XM_047440986
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	14

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTVLRTLPRLQKLNNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATSGAQDE RGLKPPSRGQFPSLSARDASSSHRGRVSGGPLGAAAASAHCTHCTETVGREHGASQGPVGREHGASQGLEELCPRGSCVC GSVNAHTRVTRAPHGAVLAPQPLLLSWSVECGPGPCWAEGNRSHVEEVPHTRPQAGLLCSDSPSVPNVLTAILLLLRELD AEGLEAVQQTVGSRLQALRGEEVQEHAE*

Gene Symbol:	CFAP410
Accession:	XM_047440987
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	14

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTVLRTLPRLQKLNNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATGAQDER GLKPPSRGQFPSLSARDASSSHRGRVSGGPLGAAAASAHCTHCTETVGREHGASQGPVGREHGASQGLEELCPRGSCVCG SVNAHTRVTRAPHGAVLAPQPLLLSWSVECGPGPCWAEGNRSHVEEVPHTRPQAGLLCSDSPSVPNVLTAILLLLRELDA EGLEAVQQTVGSRLQALRGEEVQEHAE*

Gene Symbol:	CFAP410
Accession:	NM_004928
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	122

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKLTRKMVLTRAKASELHSVRKLNCWGSRLTDISICQEMPSLEVITLSVNSISTLEPVSRCQRLSELYLRRNRIPSLAEL FYLKGLPRLRVLWLAENPCCGTSPHRYRMTVLRTLPRLQKLNNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCT LSSLSSAAETGRDPLDSEEEATSGAQDERGLKPPSRGQFPSLSARDASSSHRGRNVLTAILLLLRELDAEGLEAVQQTVG SRLQALRGEEVQEHAE*

Gene Symbol:	CFAP410
Accession:	XM_047440985
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	14

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTVLRTLPRLQKLNNQAVTEEELSRALSEGEEITAAPEREGTGHGGPKLCCTLSSLSSAAETGRDPLDSEEEATSGAQDE RGLKPPSRGQFPSLSARDASSSHRGRVSGGPLGAAAASAHCTHCTETVGREHGASQGPVGREHGASQGLEELCPRGSCVC GSVNAHTRVTRAPHGAVLAPQPLLLSWSVECGPGPCWAEGNRSHVEEVPHTRPQAGLLCSDSPSVPNVLTAILLLLRELD AEGLEAVQQTVGSRLQALRGEEVQEHAE*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:27596865	PMID:28492532	PMID:31456290

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001860522	CLINVAR
	RCV002267748	CLINVAR
dbSNP (RS)	rs1602079250	CLINVAR
MedGen	C3661900	CLINVAR
	C4085590	CLINVAR
NCBI Gene	CFAP410	CLINVAR
OMIM	120970	CLINVAR
	603191	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:21404878 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:21404878 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar