RGD:21074553 Rat Genome Database

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Variant: RGD:21074553 -  Homo sapiens

RGD ID: 21074553
RS ID: rs762861847
ClinVar ID: CV797106
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GABRA5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 27,182,464
GRCh38 15 26,937,317
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001165037.2:c.713G>A
NM_000810.4:c.713G>A
NG_032883.1:g.75599G>A
NC_000015.10:g.26937317G>A
More... 		03/01/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GABRA5
Accession:XM_017022056
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 238
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNGMFSGFIMIKNLLLFCISMNLSSHFGFSQMPTSSVKDETNDNITIFTRILDGLLDGYDNRLRPGLGERITQVRTDIY
VTSFGPVSDTEMEYTIDVFFRQSWKDERLRFKGPMQRLPLNNLLASKIWTPDTFFHNGKKSIAHNMTTPNKLLRLEDDGT
LLYTMRLTISAECPMQLEDFPMDAHACPLKFGSYAYPNSEVVYVWTNGSTKSVVVAEDGSRLNQYHLMGQTVGTENINTS
TGEYTIMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGPLDRESVPDSIQT*

Gene Symbol:GABRA5
Accession:XM_005268258
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 238
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNGMFSGFIMIKNLLLFCISMNLSSHFGFSQMPTSSVKDETNDNITIFTRILDGLLDGYDNRLRPGLGERITQVRTDIY
VTSFGPVSDTEMEYTIDVFFRQSWKDERLRFKGPMQRLPLNNLLASKIWTPDTFFHNGKKSIAHNMTTPNKLLRLEDDGT
LLYTMRLTISAECPMQLEDFPMDAHACPLKFGSYAYPNSEVVYVWTNGSTKSVVVAEDGSRLNQYHLMGQTVGTENINTS
TGEYTIMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAM
DWFIAVCYAFVFSALIEFATVNYFTKRGWAWDGKKALEAAKIKKKREVILNKSTNAFTTGKMSHPPNIPKEQTPAGTSNT
TSVSVKPSEEKTSESKKTYNSISKIDKMSRIVFPVLFGTFNLVYWATYLNREPVIKGAASPK*

Gene Symbol:GABRA5
Accession:XM_047432339
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 238
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNGMFSGFIMIKNLLLFCISMNLSSHFGFSQMPTSSVKDETNDNITIFTRILDGLLDGYDNRLRPGLGERITQVRTDIY
VTSFGPVSDTEMEYTIDVFFRQSWKDERLRFKGPMQRLPLNNLLASKIWTPDTFFHNGKKSIAHNMTTPNKLLRLEDDGT
LLYTMRLTISAECPMQLEDFPMDAHACPLKFGSYAYPNSEVVYVWTNGSTKSVVVAEDGSRLNQYHLMGQTVGTENINTS
TGEYTIMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGPLDRESVPDSIQT*

Gene Symbol:GABRA5
Accession:NM_000810
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 238
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNGMFSGFIMIKNLLLFCISMNLSSHFGFSQMPTSSVKDETNDNITIFTRILDGLLDGYDNRLRPGLGERITQVRTDIY
VTSFGPVSDTEMEYTIDVFFRQSWKDERLRFKGPMQRLPLNNLLASKIWTPDTFFHNGKKSIAHNMTTPNKLLRLEDDGT
LLYTMRLTISAECPMQLEDFPMDAHACPLKFGSYAYPNSEVVYVWTNGSTKSVVVAEDGSRLNQYHLMGQTVGTENINTS
TGEYTIMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAM
DWFIAVCYAFVFSALIEFATVNYFTKRGWAWDGKKALEAAKIKKKREVILNKSTNAFTTGKMSHPPNIPKEQTPAGTSNT
TSVSVKPSEEKTSESKKTYNSISKIDKMSRIVFPVLFGTFNLVYWATYLNREPVIKGAASPK*

Gene Symbol:GABRA5
Accession:XM_006720459
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 238
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNGMFSGFIMIKNLLLFCISMNLSSHFGFSQMPTSSVKDETNDNITIFTRILDGLLDGYDNRLRPGLGERITQVRTDIY
VTSFGPVSDTEMEYTIDVFFRQSWKDERLRFKGPMQRLPLNNLLASKIWTPDTFFHNGKKSIAHNMTTPNKLLRLEDDGT
LLYTMRLTISAECPMQLEDFPMDAHACPLKFGSYAYPNSEVVYVWTNGSTKSVVVAEDGSRLNQYHLMGQTVGTENINTS
TGEYTIMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAM
DWFIAVCYAFVFSALIEFATVNYFTKRGWAWDGKKALEAAKIKKKREVILNKSTNAFTTGKMSHPPNIPKEQTPAGTSNT
TSVSVKPSEEKTSESKKTYNSISKIDKMSRIVFPVLFGTFNLVYWATYLNREPVIKGAASPK*

Gene Symbol:GABRA5
Accession:NM_001165037
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 238
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNGMFSGFIMIKNLLLFCISMNLSSHFGFSQMPTSSVKDETNDNITIFTRILDGLLDGYDNRLRPGLGERITQVRTDIY
VTSFGPVSDTEMEYTIDVFFRQSWKDERLRFKGPMQRLPLNNLLASKIWTPDTFFHNGKKSIAHNMTTPNKLLRLEDDGT
LLYTMRLTISAECPMQLEDFPMDAHACPLKFGSYAYPNSEVVYVWTNGSTKSVVVAEDGSRLNQYHLMGQTVGTENINTS
TGEYTIMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAM
DWFIAVCYAFVFSALIEFATVNYFTKRGWAWDGKKALEAAKIKKKREVILNKSTNAFTTGKMSHPPNIPKEQTPAGTSNT
TSVSVKPSEEKTSESKKTYNSISKIDKMSRIVFPVLFGTFNLVYWATYLNREPVIKGAASPK*

Gene Symbol:GABRA5
Accession:XM_017022055
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 238
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNGMFSGFIMIKNLLLFCISMNLSSHFGFSQMPTSSVKDETNDNITIFTRILDGLLDGYDNRLRPGLGERITQVRTDIY
VTSFGPVSDTEMEYTIDVFFRQSWKDERLRFKGPMQRLPLNNLLASKIWTPDTFFHNGKKSIAHNMTTPNKLLRLEDDGT
LLYTMRLTISAECPMQLEDFPMDAHACPLKFGSYAYPNSEVVYVWTNGSTKSVVVAEDGSRLNQYHLMGQTVGTENINTS
TGEYTIMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGPLDRESVPDSIQT*

Gene Symbol:GABRA5
Accession:XM_047432338
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 238
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNGMFSGFIMIKNLLLFCISMNLSSHFGFSQMPTSSVKDETNDNITIFTRILDGLLDGYDNRLRPGLGERITQVRTDIY
VTSFGPVSDTEMEYTIDVFFRQSWKDERLRFKGPMQRLPLNNLLASKIWTPDTFFHNGKKSIAHNMTTPNKLLRLEDDGT
LLYTMRLTISAECPMQLEDFPMDAHACPLKFGSYAYPNSEVVYVWTNGSTKSVVVAEDGSRLNQYHLMGQTVGTENINTS
TGEYTIMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGPLDRESVPDSIQT*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000995281 CLINVAR
dbSNP (RS) rs762861847 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GABRA5 CLINVAR
OMIM 137142 CLINVAR