RGD:13674135 Rat Genome Database

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Variant: RGD:13674135 -  Homo sapiens

RGD ID: 13674135
RS ID: rs1554576888
ClinVar ID: CV536133
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RSPO2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 108,972,920
GRCh38 8 107,960,692
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_848660.3:p.Glu137Ter
NC_000008.11:g.107960692C>A
NC_000008.10:g.108972920C>A
NG_065170.1:g.127994G>T
More...
06/22/2018 nonsense pathogenic|likely pathogenic TETRAAMELIA SYNDROME 2 WITH PULMONARY AGENESIS
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RSPO2
Accession:NM_178565
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQFRLFSFALIILNCMDYSHCQGNRWRRSKRASYVSNPICKGCLSCSKDNGCSRCQQKLFFFLRREGMRQYGECLHSCPS
GYYGHRAPDMNRCARCRIENCDSCFSKDFCTKCKVGFYLHRGRCFDECPDGFAPLE*TMECVEGCEVGHWSEWGTCSRNN
RTCGFKWGLETRTRQIVKKPVKDTILCPTIAESRRCKMTMRHCPGGKRTPKAKEKRNKKKKRKLIERAQEQHSVFLATDR
ANQ*

Gene Symbol:RSPO2
Accession:NM_001282863
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQFRLFSFALIILNCMDYSHCQGNRWRRSKRGCRIENCDSCFSKDFCTKCKVGFYLHRGRCFDECPDGFAPLE*TMECVG
CEVGHWSEWGTCSRNNRTCGFKWGLETRTRQIVKKPVKDTILCPTIAESRRCKMTMRHCPGGKRTPKAKEKRNKKKKRKL
IERAQEQHSVFLATDRANQ*

Gene Symbol:RSPO2
Accession:NM_001317942
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRQYGECLHSCPSGYYGHRAPDMNRCARCRIENCDSCFSKDFCTKCKVGFYLHRGRCFDECPDGFAPLE*TMECVEGCEV
GHWSEWGTCSRNNRTCGFKWGLETRTRQIVKKPVKDTILCPTIAESRRCKMTMRHCPGGKRTPKAKEKRNKKKKRKLIER
AQEQHSVFLATDRANQ*

Variant Samples
Additional References at PubMed
PMID:29769720  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000656659 CLINVAR
dbSNP (RS) rs1554576888 CLINVAR
MedGen C4747923 CLINVAR
NCBI Gene RSPO2 CLINVAR
OMIM 610575 CLINVAR
  618021 CLINVAR
OMIM Allele 610575.0002 CLINVAR