RGD:156150832 Rat Genome Database

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Variant: RGD:156150832 -  Homo sapiens

RGD ID: 156150832
ClinVar ID: CV2023046
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RSPO2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 109,001,311
GRCh38 8 107,989,083
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1405t1:c.256C>T
NM_178565.5:c.256C>T
NM_001317942.2:c.55C>T
NM_001282863.2:c.95-28266C>T
More... 		10/17/2022 intron variant pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:RSPO2
Accession:NM_178565
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQFRLFSFALIILNCMDYSHCQGNRWRRSKRASYVSNPICKGCLSCSKDNGCSRCQQKLFFFLRREGMRQYGECLHSCPS
GYYGH*APDMNRCARCRIENCDSCFSKDFCTKCKVGFYLHRGRCFDECPDGFAPLEETMECVEGCEVGHWSEWGTCSRNN
RTCGFKWGLETRTRQIVKKPVKDTILCPTIAESRRCKMTMRHCPGGKRTPKAKEKRNKKKKRKLIERAQEQHSVFLATDR
ANQ*

Gene Symbol:RSPO2
Accession:NM_001317942
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 19
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRQYGECLHSCPSGYYGH*APDMNRCARCRIENCDSCFSKDFCTKCKVGFYLHRGRCFDECPDGFAPLEETMECVEGCEV
GHWSEWGTCSRNNRTCGFKWGLETRTRQIVKKPVKDTILCPTIAESRRCKMTMRHCPGGKRTPKAKEKRNKKKKRKLIER
AQEQHSVFLATDRANQ*

Gene Symbol:RSPO2
Accession:NM_001282863
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:19233133   PMID:28492532   PMID:29769720  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002741218 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RSPO2 CLINVAR
OMIM 610575 CLINVAR