RGD:14976035 Rat Genome Database

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Variant: RGD:14976035 -  Homo sapiens

RGD ID: 14976035
RS ID: rs1595438243
ClinVar ID: CV676983
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GABRA5  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 27,188,364
GRCh38 15 26,943,217
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000810.4:c.880G>C
NG_032883.1:g.81499G>C
NC_000015.9:g.27188364G>C
NM_001165037.2:c.880G>C
More... 		11/25/2020 missense variant pathogenic EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GABRA5
Accession:XM_006720459
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNGMFSGFIMIKNLLLFCISMNLSSHFGFSQMPTSSVKDETNDNITIFTRILDGLLDGYDNRLRPGLGERITQVRTDIY
VTSFGPVSDTEMEYTIDVFFRQSWKDERLRFKGPMQRLPLNNLLASKIWTPDTFFHNGKKSIAHNMTTPNKLLRLEDDGT
LLYTMRLTISAECPMQLEDFPMDAHACPLKFGSYAYPNSEVVYVWTNGSTKSVVVAEDGSRLNQYHLMGQTVGTENISTS
TGEYTIMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGLTTVLTMTTLSISARNSLPKVAYATAM
DWFIAVCYAFVFSALIEFATVNYFTKRGWAWDGKKALEAAKIKKKREVILNKSTNAFTTGKMSHPPNIPKEQTPAGTSNT
TSVSVKPSEEKTSESKKTYNSISKIDKMSRIVFPVLFGTFNLVYWATYLNREPVIKGAASPK*

Gene Symbol:GABRA5
Accession:NM_000810
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNGMFSGFIMIKNLLLFCISMNLSSHFGFSQMPTSSVKDETNDNITIFTRILDGLLDGYDNRLRPGLGERITQVRTDIY
VTSFGPVSDTEMEYTIDVFFRQSWKDERLRFKGPMQRLPLNNLLASKIWTPDTFFHNGKKSIAHNMTTPNKLLRLEDDGT
LLYTMRLTISAECPMQLEDFPMDAHACPLKFGSYAYPNSEVVYVWTNGSTKSVVVAEDGSRLNQYHLMGQTVGTENISTS
TGEYTIMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGLTTVLTMTTLSISARNSLPKVAYATAM
DWFIAVCYAFVFSALIEFATVNYFTKRGWAWDGKKALEAAKIKKKREVILNKSTNAFTTGKMSHPPNIPKEQTPAGTSNT
TSVSVKPSEEKTSESKKTYNSISKIDKMSRIVFPVLFGTFNLVYWATYLNREPVIKGAASPK*

Gene Symbol:GABRA5
Accession:XM_005268258
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNGMFSGFIMIKNLLLFCISMNLSSHFGFSQMPTSSVKDETNDNITIFTRILDGLLDGYDNRLRPGLGERITQVRTDIY
VTSFGPVSDTEMEYTIDVFFRQSWKDERLRFKGPMQRLPLNNLLASKIWTPDTFFHNGKKSIAHNMTTPNKLLRLEDDGT
LLYTMRLTISAECPMQLEDFPMDAHACPLKFGSYAYPNSEVVYVWTNGSTKSVVVAEDGSRLNQYHLMGQTVGTENISTS
TGEYTIMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGLTTVLTMTTLSISARNSLPKVAYATAM
DWFIAVCYAFVFSALIEFATVNYFTKRGWAWDGKKALEAAKIKKKREVILNKSTNAFTTGKMSHPPNIPKEQTPAGTSNT
TSVSVKPSEEKTSESKKTYNSISKIDKMSRIVFPVLFGTFNLVYWATYLNREPVIKGAASPK*

Gene Symbol:GABRA5
Accession:NM_001165037
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDNGMFSGFIMIKNLLLFCISMNLSSHFGFSQMPTSSVKDETNDNITIFTRILDGLLDGYDNRLRPGLGERITQVRTDIY
VTSFGPVSDTEMEYTIDVFFRQSWKDERLRFKGPMQRLPLNNLLASKIWTPDTFFHNGKKSIAHNMTTPNKLLRLEDDGT
LLYTMRLTISAECPMQLEDFPMDAHACPLKFGSYAYPNSEVVYVWTNGSTKSVVVAEDGSRLNQYHLMGQTVGTENISTS
TGEYTIMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGLTTVLTMTTLSISARNSLPKVAYATAM
DWFIAVCYAFVFSALIEFATVNYFTKRGWAWDGKKALEAAKIKKKREVILNKSTNAFTTGKMSHPPNIPKEQTPAGTSNT
TSVSVKPSEEKTSESKKTYNSISKIDKMSRIVFPVLFGTFNLVYWATYLNREPVIKGAASPK*

Gene Symbol:GABRA5
Accession:XM_017022056
Location:INTRON

Gene Symbol:GABRA5
Accession:XM_047432338
Location:INTRON

Gene Symbol:GABRA5
Accession:XM_017022055
Location:INTRON

Gene Symbol:GABRA5
Accession:XM_047432339
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:29961870  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000850105 CLINVAR
dbSNP (RS) rs1595438243 CLINVAR
MedGen C5231410 CLINVAR
NCBI Gene GABRA5 CLINVAR
OMIM 137142 CLINVAR
  618559 CLINVAR
OMIM Allele 137142.0001 CLINVAR