RGD:11567770 Rat Genome Database

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Variant: RGD:11567770 -  Homo sapiens

RGD ID: 11567770
RS ID: rs886041054
ClinVar ID: CV263624
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNB5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 52,446,137
GRCh38 15 52,153,940
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.10:g.52153940C>T
NC_000015.9:g.52446137C>T
NP_006569.1:p.Gln83=
NP_057278.2:p.Gln125=
More... 		11/09/2016 synonymous variant pathogenic|not provided Intellectual developmental disorder with cardiac arrhythmia; LODDER-MERLA SYNDROME, TYPE 1, WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CARDIAC ARRHYTHMIA
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GNB5
Accession:NM_016194
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCDQTFLVNVFGSCDKCFKQRALRPVFKKSQQLSYCSTCAEIMATEGLHENETLASLKSEAESLKGKLEEERAKLHDVEL
HQVAERVEALGQFVMKTRRTLKGHGNKVLCMDWCKDKRRIVSSSQDGKVIVWDSFTTNKEHAVTMPCTWVMACAYAPSGC
AIACGGLDNKCSVYPLTFDKNENMAAKKKSVAMHTNYLSACSFTNSDMQILTASGDGTCALWDVESGQLLQSFHGHGADV
LCLDLAPSETGNTFVSGGCDKKAMVWDMRSGQCVQAFETHESDINSVRYYPSGDAFASGSDDATCRLYDLRADREVAIYS
KESIIFGASSVDFSLSGRLLFAGYNDYTINVWDVLKGSRVSILFGHENRVSTLRVSPDGTAFCSGSWDHTLRVWA*

Gene Symbol:GNB5
Accession:XM_011521162
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 83
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAYLSCRDSVCPSYTSTQLGRLRPSPTSTTGWLELQDMHQVAERVEALGQFVMKTRRTLKGHGNKVLCMDWCKDKRRIVS
SSQDGKVIVWDSFTTNKEHAVTMPCTWVMACAYAPSGCAIACGGLDNKCSVYPLTFDKNENMAAKKKSVAMHTNYLSACS
FTNSDMQILTASGDGTCALWDVESGQLLQSFHGHGADVLCLDLAPSETGNTFVSGGCDKKAMVWDMRSGQCVQAFETHES
DINSVRYYPSGDAFASGSDDATCRLYDLRADREVAIYSKESIIFGASSVDFSLSGRLLFAGYNDYTINVWDVLKGSRVSI
LFGHENRVSTLRVSPDGTAFCSGSWDHTLRVWA*

Gene Symbol:GNB5
Accession:NM_006578
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 83
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATEGLHENETLASLKSEAESLKGKLEEERAKLHDVELHQVAERVEALGQFVMKTRRTLKGHGNKVLCMDWCKDKRRIVS
SSQDGKVIVWDSFTTNKEHAVTMPCTWVMACAYAPSGCAIACGGLDNKCSVYPLTFDKNENMAAKKKSVAMHTNYLSACS
FTNSDMQILTASGDGTCALWDVESGQLLQSFHGHGADVLCLDLAPSETGNTFVSGGCDKKAMVWDMRSGQCVQAFETHES
DINSVRYYPSGDAFASGSDDATCRLYDLRADREVAIYSKESIIFGASSVDFSLSGRLLFAGYNDYTINVWDVLKGSRVSI
LFGHENRVSTLRVSPDGTAFCSGSWDHTLRVWA*

Gene Symbol:GNB5
Accession:NM_001379343
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTRRTLKGHGNKVLCMDWCKDKRRIVSSSQDGKVIVWDSFTTNKEHAVTMPCTWVMACAYAPSGCAIACGGLDNKCSVY
PLTFDKNENMAAKKKSVAMHTNYLSACSFTNSDMQILTASGDGTCALWDVESGQLLQSFHGHGADVLCLDLAPSETGNTF
VSGGCDKKAMVWDMRSGQCVQAFETHESDINSVRYYPSGDAFASGSDDATCRLYDLRADREVAIYSKESIIFGASSVDFS
LSGRLLFAGYNDYTINVWDVLKGSRVSILFGHENRVSTLRVSPDGTAFCSGSWDHTLRVWA*
Variant Samples
Additional References at PubMed
PMID:27523599  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000258840 CLINVAR
dbSNP (RS) rs886041054 CLINVAR
MedGen C5568877 CLINVAR
NCBI Gene GNB5 CLINVAR
OMIM 604447 CLINVAR
  617173 CLINVAR
OMIM Allele 604447.0001 CLINVAR