RGD:13822597 Rat Genome Database

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Variant: RGD:13822597 -  Homo sapiens

RGD ID: 13822597
RS ID: rs776919102
ClinVar ID: CV564948
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLRA1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 151,231,142
GRCh38 5 151,851,581
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011764.1:g.78256C>T
NC_000005.10:g.151851581G>A
NC_000005.9:g.151231142G>A
NP_000162.2:p.Arg241Trp
More... 		06/04/2018 missense variant uncertain significance Hyperexplexia, hereditary
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GLRA1
Accession:NM_001146040
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYSFNTLRLYLWETIVFFSLAASKEAEAARSAPKPMSPSDFLDKLMGRTSGYDARIRPNFKGPPVNVSCNIFINSFGSIA
ETTMDYRVNIFLRQQWNDPRLAYNEYPDDSLDLDPSMLDSIWKPDLFFANEKGAHFHEITTDNKLLRISRNGNVLYSIRI
TLTLACPMDLKNFPMDVQTCIMQLESFGYTMNDLIFEWQEQGAVQVADGLTLPQFILKEEKDLRYCTKHYNTGKFTCIEA
WFHLERQMGYYLIQMYIPSLLIVILSWISFWINMDAAPARVGLGITTVLTMTTQSSGSRASLPKVSYVKAIDIWMAVCLL
FVFSALLEYAAVNFVSRQHKELLRFRRKRRHHKSPMLNLFQEDEAGEGRFNFSAYGMGPACLQAKDGISVKGANNSNTTN
PPPAPSKSPEEMRKLFIQRAKKIDKISRIGFPMAFLIFNMFYWIIYKIVRREDVHNQ*

Gene Symbol:GLRA1
Accession:NM_000171
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYSFNTLRLYLWETIVFFSLAASKEAEAARSAPKPMSPSDFLDKLMGRTSGYDARIRPNFKGPPVNVSCNIFINSFGSIA
ETTMDYRVNIFLRQQWNDPRLAYNEYPDDSLDLDPSMLDSIWKPDLFFANEKGAHFHEITTDNKLLRISRNGNVLYSIRI
TLTLACPMDLKNFPMDVQTCIMQLESFGYTMNDLIFEWQEQGAVQVADGLTLPQFILKEEKDLRYCTKHYNTGKFTCIEA
WFHLERQMGYYLIQMYIPSLLIVILSWISFWINMDAAPARVGLGITTVLTMTTQSSGSRASLPKVSYVKAIDIWMAVCLL
FVFSALLEYAAVNFVSRQHKELLRFRRKRRHHKEDEAGEGRFNFSAYGMGPACLQAKDGISVKGANNSNTTNPPPAPSKS
PEEMRKLFIQRAKKIDKISRIGFPMAFLIFNMFYWIIYKIVRREDVHNQ*

Gene Symbol:GLRA1
Accession:NM_001292000
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYRVNIFLRQQWNDPRLAYNEYPDDSLDLDPSMLDSIWKPDLFFANEKGAHFHEITTDNKLLRISRNGNVLYSIRITLT
LACPMDLKNFPMDVQTCIMQLESFGYTMNDLIFEWQEQGAVQVADGLTLPQFILKEEKDLRYCTKHYNTGKFTCIEAWFH
LERQMGYYLIQMYIPSLLIVILSWISFWINMDAAPARVGLGITTVLTMTTQSSGSRASLPKVSYVKAIDIWMAVCLLFVF
SALLEYAAVNFVSRQHKELLRFRRKRRHHKEDEAGEGRFNFSAYGMGPACLQAKDGISVKGANNSNTTNPPPAPSKSPEE
MRKLFIQRAKKIDKISRIGFPMAFLIFNMFYWIIYKIVRREDVHNQ*

Gene Symbol:GLRA1
Accession:XM_047417105
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 257
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGIQPNLEPTLIKGNLYQHEKEPSLTFCSPLFLLSLAASKEAEAARSAPKPMSPSDFLDKLMGRTSGYDARIRPNFKGPP
VNVSCNIFINSFGSIAETTMDYRVNIFLRQQWNDPRLAYNEYPDDSLDLDPSMLDSIWKPDLFFANEKGAHFHEITTDNK
LLRISRNGNVLYSIRITLTLACPMDLKNFPMDVQTCIMQLESFGYTMNDLIFEWQEQGAVQVADGLTLPQFILKEEKDLR
YCTKHYNTGKFTCIEAWFHLERQMGYYLIQMYIPSLLIVILSWISFWINMDAAPARVGLGITTVLTMTTQSSGSRASLPK
VSYVKAIDIWMAVCLLFVFSALLEYAAVNFVSRQHKELLRFRRKRRHHKEDEAGEGRFNFSAYGMGPACLQAKDGISVKG
ANNSNTTNPPPAPSKSPEEMRKLFIQRAKKIDKISRIGFPMAFLIFNMFYWIIYKIVRREDVHNQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002233641 CLINVAR
dbSNP (RS) rs776919102 CLINVAR
MedGen C1835614 CLINVAR
NCBI Gene GLRA1 CLINVAR
OMIM 138491 CLINVAR