RGD:11658291 Rat Genome Database

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Variant: RGD:11658291 -  Homo sapiens

RGD ID: 11658291
RS ID: rs886062859
ClinVar ID: CV305069
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ESCO2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 27,634,660
GRCh38 8 27,777,143
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008117.1:g.7603A>G
NC_000008.11:g.27777143A>G
NC_000008.10:g.27634660A>G
NP_001017420.1:p.Ser279Gly
More... 		06/14/2016 missense variant uncertain significance antenatal rbs is rare; no accurate estimates of prevalence have been published. approximately 150 individuals of diverse racial and ethnic backgrounds have been reported. Long bone deficiencies associated with cleft lip-palate; Roberts syndrome/SC phocomelia; Tetraphocomelia-cleft palate syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ESCO2
Accession:NM_001017420
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 279
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALTPRKRKQDSLKCDSLLHFTENLFPSPNKKHCFYQNSDKNEENLHCSQQEHFVLSALKTTEINRLPSANQGSPFKSA
LSTVSFYNQNKWYLNPLERKLIKESRSTCLKTNDEDKSFPIVTEKMQGKPVCSKKNNKKPQKSLTAKYQPKYRHIKPVSR
NSRNSKQNRVIYKPIVEKENNCHSAENNSNAPRVLSQKIKPQVTLQGGAAFFVRKKSSLRKSSLENEPSLGRTQKSKSEV
IEDSDVETVSEKKTFATRQVPKCLVLEEKLKIGLLSASGKNKEKLIKDSSDDRVSSKEHKVDKNEAFSSEDSLGENKTIS
PKSTVYPIFSASSVNSKRSLGEEQFSVGSVNFMKQTNIQKNTNTRDTSKKTKDQLIIDAGQKHFGATVCKSCGMIYTASN
PEDEMQHVQHHHRFLEGIKYVGWKKERVVAEFWDGKIVLVLPHDPSFAIKKVEDVQELVDNELGFQQVVPKCPNKIKTFL
FISDEKRVVGCLIAEPIKQAFRVLSEPIGPESPSSTECPRAWQCSDVPEPAVCGISRIWVFRLKRRKRIARRLVDTLRNC
FMFGCFLSTDEIAFSDPTPDGKLFATKYCNTPNFLVYNFNS*

Gene Symbol:ESCO2
Accession:XM_011544421
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 279
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALTPRKRKQDSLKCDSLLHFTENLFPSPNKKHCFYQNSDKNEENLHCSQQEHFVLSALKTTEINRLPSANQGSPFKSA
LSTVSFYNQNKWYLNPLERKLIKESRSTCLKTNDEDKSFPIVTEKMQGKPVCSKKNNKKPQKSLTAKYQPKYRHIKPVSR
NSRNSKQNRVIYKPIVEKENNCHSAENNSNAPRVLSQKIKPQVTLQGGAAFFVRKKSSLRKSSLENEPSLGRTQKSKSEV
IEDSDVETVSEKKTFATRQVPKCLVLEEKLKIGLLSASGKNKEKLIKDSSDDRVSSKEHKVDKNEAFSSEDSLGENKTIS
PKSTVYPIFSASSVNSKRSLGEEQFSVGSVNFMKQTNIQKNTNTRDTSKKTKDQLIIDAGQKHFGATVCKSCGMIYTASN
PEDEMQHVQHHHRFLEGIKYVGWKKERVVAEFWDGKIVLVLPHDPSFAIKKVEDVQELVDNELGFQQVVPKCPNKIKTFL
FISDEKRVVGCLIAEPIKQAFRVLSEPIGPESPSSTECPRAWQCSDVPEPAVCGISRIWVFRLKRRKRIARRLVDTLRNC
FMFGCFLSTDEIAFSDPTPDGKLFATKYCNTPNFLVYNFNS*

Gene Symbol:ESCO2
Accession:XM_011544422
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 279
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALTPRKRKQDSLKCDSLLHFTENLFPSPNKKHCFYQNSDKNEENLHCSQQEHFVLSALKTTEINRLPSANQGSPFKSA
LSTVSFYNQNKWYLNPLERKLIKESRSTCLKTNDEDKSFPIVTEKMQGKPVCSKKNNKKPQKSLTAKYQPKYRHIKPVSR
NSRNSKQNRVIYKPIVEKENNCHSAENNSNAPRVLSQKIKPQVTLQGGAAFFVRKKSSLRKSSLENEPSLGRTQKSKSEV
IEDSDVETVSEKKTFATRQVPKCLVLEEKLKIGLLSASGKNKEKLIKDSSDDRVSSKEHKVDKNEAFSSEDSLGENKTIS
PKSTVYPIFSASSVNSKRSLGEEQFSVGSVNFMKQTNIQKNTNTRDTSKKTKDQLIIDAGQKHFGATVCKSCGMIYTASN
PEDEMQHVQHHHRFLEGIKYVGWKKERVVAEFWDGKIVLVLPHDPSFAIKKVEDVQELVDNELGFQQVVPKCPNKIKTFL
FISDEKRVVGCLIAEPIKQAFRVLSEPIGPESPSSTECPRAWQCSDVPEPAVCGISRIWVFRLKRRKRIARRLVDTLRNC
FMFGCFLSTDEIAFSDPTPDDCRRLNRYQET*

Gene Symbol:ESCO2
Accession:XR_007060703
Location:EXON;NON-CODING

Gene Symbol:ESCO2
Accession:XR_949378
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000347986 CLINVAR
dbSNP (RS) rs886062859 CLINVAR
MedGen C0392475 CLINVAR
NCBI Gene ESCO2 CLINVAR
OMIM 268300 CLINVAR
  609353 CLINVAR
SNOMED CT 48718006 CLINVAR