RGD:156365564 Rat Genome Database

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Variant: RGD:156365564 -  Homo sapiens

RGD ID: 156365564
ClinVar ID: CV2193227
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RSPO4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 941,085
GRCh38 20 960,442
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001040007.3:c.434G>A
NM_001029871.4:c.620G>A
NG_013043.1:g.46823G>A
NC_000020.11:g.960442C>T
More... 		01/03/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RSPO4
Accession:NM_001040007
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRAPLCLLLLVAHAVDMLALNRRKKQVGTGLGGNCTGCIICSEENGCSTCQQRLFLFIRREGIRQYGKCLHDCPPGYFGI
RGQEVNRCKKCGATCESCFSQDFCIRCKRQFYLYKGKCLPTCPPGTLAHQNTRECQERSPGQKKDRKDRRPRKDRKLDRR
LDVRPRQPGLQP*

Gene Symbol:RSPO4
Accession:NM_001029871
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 207
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRAPLCLLLLVAHAVDMLALNRRKKQVGTGLGGNCTGCIICSEENGCSTCQQRLFLFIRREGIRQYGKCLHDCPPGYFGI
RGQEVNRCKKCGATCESCFSQDFCIRCKRQFYLYKGKCLPTCPPGTLAHQNTRECQGECELGPWGGWSPCTHNGKTCGSA
WGLESRVREAGRAGHEEAATCQVLSESRKCPIQRPCPGERSPGQKKDRKDRRPRKDRKLDRRLDVRPRQPGLQP*

Gene Symbol:RSPO4
Accession:XM_017027839
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002651976 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene RSPO4 CLINVAR
OMIM 610573 CLINVAR