RGD:8556033 Rat Genome Database

Variant: RGD:8556033 - Homo sapiens

RGD ID:

8556033

RS ID:

rs74315422

ClinVar ID:

CV16231

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

RSPO4

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	20	947,873
GRCh38	20	967,230

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	Prevalence	Trait Synonyms
NG_013043.1:g.40035G>A NC_000020.11:g.967230C>T NC_000020.10:g.947873C>T NP_001025042.2:p.Cys118Tyr More...	08/11/2011	missense\|missense variant	pathogenic	<1 / 1 000 000	ANONYCHIA TOTALIS; ANONYCHIA/HYPONYCHIA CONGENITA; Hyponychia congenita; NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4

Disease Annotations Click to see Annotation Detail View

nonsyndromic congenital nail disorder 4 (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Anonychia (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	RSPO4
Accession:	NM_001029871
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRAPLCLLLLVAHAVDMLALNRRKKQVGTGLGGNCTGCIICSEENGCSTCQQRLFLFIRREGIRQYGKCLHDCPPGYFGI RGQEVNRCKKCGATCESCFSQDFCIRCKRQFYLYKGKYLPTCPPGTLAHQNTRECQGECELGPWGGWSPCTHNGKTCGSA WGLESRVREAGRAGHEEAATCQVLSESRKCPIQRPCPGERSPGQKKGRKDRRPRKDRKLDRRLDVRPRQPGLQP*

Gene Symbol:	RSPO4
Accession:	NM_001040007
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRAPLCLLLLVAHAVDMLALNRRKKQVGTGLGGNCTGCIICSEENGCSTCQQRLFLFIRREGIRQYGKCLHDCPPGYFGI RGQEVNRCKKCGATCESCFSQDFCIRCKRQFYLYKGKYLPTCPPGTLAHQNTRECQERSPGQKKGRKDRRPRKDRKLDRR LDVRPRQPGLQP*

Gene Symbol:	RSPO4
Accession:	XM_017027839
Location:	EXON
Amino Acid Prediction:	C to Y (nonsynonymous)
Amino Acid Position:	118

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRAPLCLLLLVAHAVDMLALNRRKKQVGTGLGGNCTGCIICSEENGCSTCQQRLFLFIRREGIRQYGKCLHDCPPGYFGI RGQEVNRCKKCGATCESCFSQDFCIRCKRQFYLYKGKYLPTCPPGTLAHQNTRECQGECELGPWGGWSPCTHNGKTCGSA WGLESRVREAGRAGHEEAATCQVLSESRKCPIQRPCPGGEPQDRHTRLRWERPTGTGRTQITAPQIVSMRLPERPPLAIL SCGVHITFPGVLSKEGLPCWVQSQIH*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:17041604

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000001251	CLINVAR
dbSNP (RS)	rs74315422	CLINVAR
MedGen	C0265998	CLINVAR
NCBI Gene	RSPO4	CLINVAR
OMIM	206800	CLINVAR
	610573	CLINVAR
OMIM Allele	610573.0003	CLINVAR
SNOMED CT	23610003	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:8556033 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:8556033 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar