RGD:401924105 Rat Genome Database

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Variant: RGD:401924105 -  Homo sapiens

RGD ID: 401924105
ClinVar ID: CV2821230
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RSPO2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 108,972,931
GRCh38 8 107,960,703
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282863.2:c.209C>T
NM_178565.5:c.398C>T
LRG_1405:g.127983C>T
NG_065170.1:g.127983C>T
More... 		11/01/2023 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:RSPO2
Accession:NM_001282863
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQFRLFSFALIILNCMDYSHCQGNRWRRSKRGCRIENCDSCFSKDFCTKCKVGFYLHRGRCFDECPDGFVPLEETMECVG
CEVGHWSEWGTCSRNNRTCGFKWGLETRTRQIVKKPVKDTILCPTIAESRRCKMTMRHCPGGKRTPKAKEKRNKKKKRKL
IERAQEQHSVFLATDRANQ*

Gene Symbol:RSPO2
Accession:NM_178565
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQFRLFSFALIILNCMDYSHCQGNRWRRSKRASYVSNPICKGCLSCSKDNGCSRCQQKLFFFLRREGMRQYGECLHSCPS
GYYGHRAPDMNRCARCRIENCDSCFSKDFCTKCKVGFYLHRGRCFDECPDGFVPLEETMECVEGCEVGHWSEWGTCSRNN
RTCGFKWGLETRTRQIVKKPVKDTILCPTIAESRRCKMTMRHCPGGKRTPKAKEKRNKKKKRKLIERAQEQHSVFLATDR
ANQ*

Gene Symbol:RSPO2
Accession:NM_001317942
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 66
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRQYGECLHSCPSGYYGHRAPDMNRCARCRIENCDSCFSKDFCTKCKVGFYLHRGRCFDECPDGFVPLEETMECVEGCEV
GHWSEWGTCSRNNRTCGFKWGLETRTRQIVKKPVKDTILCPTIAESRRCKMTMRHCPGGKRTPKAKEKRNKKKKRKLIER
AQEQHSVFLATDRANQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003435589 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RSPO2 CLINVAR
OMIM 610575 CLINVAR