RGD:8565399 Rat Genome Database

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Variant: RGD:8565399 -  Homo sapiens

RGD ID: 8565399
RS ID: rs121918415
ClinVar ID: CV31108
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLRA1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 151,234,608
GRCh38 5 151,855,047
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_011764.1:g.74790C>A
NC_000005.10:g.151855047G>T
NC_000005.9:g.151234608G>T
NP_001139512.1:p.Tyr230Ter
More... 		09/07/2021 nonsense|stop-gain pathogenic neonatal/infancy <1 / 1 000 000 HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT; HYPEREKPLEXIA 1, AUTOSOMAL RECESSIVE; Kok disease; Startle disease, familial; Startle reaction, exaggerated; Stiff-baby syndrome; Stiff-man syndrome, congenital; Stiff-person syndrome, congenital
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GLRA1
Accession:NM_000171
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 230
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYSFNTLRLYLWETIVFFSLAASKEAEAARSAPKPMSPSDFLDKLMGRTSGYDARIRPNFKGPPVNVSCNIFINSFGSIA
ETTMDYRVNIFLRQQWNDPRLAYNEYPDDSLDLDPSMLDSIWKPDLFFANEKGAHFHEITTDNKLLRISRNGNVLYSIRI
TLTLACPMDLKNFPMDVQTCIMQLESFGYTMNDLIFEWQEQGAVQVADGLTLPQFILKEEKDLRYCTKH*NTGKFTCIEA
RFHLERQMGYYLIQMYIPSLLIVILSWISFWINMDAAPARVGLGITTVLTMTTQSSGSRASLPKVSYVKAIDIWMAVCLL
FVFSALLEYAAVNFVSRQHKELLRFRRKRRHHKEDEAGEGRFNFSAYGMGPACLQAKDGISVKGANNSNTTNPPPAPSKS
PEEMRKLFIQRAKKIDKISRIGFPMAFLIFNMFYWIIYKIVRREDVHNQ*

Gene Symbol:GLRA1
Accession:NM_001146040
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 230
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYSFNTLRLYLWETIVFFSLAASKEAEAARSAPKPMSPSDFLDKLMGRTSGYDARIRPNFKGPPVNVSCNIFINSFGSIA
ETTMDYRVNIFLRQQWNDPRLAYNEYPDDSLDLDPSMLDSIWKPDLFFANEKGAHFHEITTDNKLLRISRNGNVLYSIRI
TLTLACPMDLKNFPMDVQTCIMQLESFGYTMNDLIFEWQEQGAVQVADGLTLPQFILKEEKDLRYCTKH*NTGKFTCIEA
RFHLERQMGYYLIQMYIPSLLIVILSWISFWINMDAAPARVGLGITTVLTMTTQSSGSRASLPKVSYVKAIDIWMAVCLL
FVFSALLEYAAVNFVSRQHKELLRFRRKRRHHKSPMLNLFQEDEAGEGRFNFSAYGMGPACLQAKDGISVKGANNSNTTN
PPPAPSKSPEEMRKLFIQRAKKIDKISRIGFPMAFLIFNMFYWIIYKIVRREDVHNQ*

Gene Symbol:GLRA1
Accession:NM_001292000
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 147
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYRVNIFLRQQWNDPRLAYNEYPDDSLDLDPSMLDSIWKPDLFFANEKGAHFHEITTDNKLLRISRNGNVLYSIRITLT
LACPMDLKNFPMDVQTCIMQLESFGYTMNDLIFEWQEQGAVQVADGLTLPQFILKEEKDLRYCTKH*NTGKFTCIEARFH
LERQMGYYLIQMYIPSLLIVILSWISFWINMDAAPARVGLGITTVLTMTTQSSGSRASLPKVSYVKAIDIWMAVCLLFVF
SALLEYAAVNFVSRQHKELLRFRRKRRHHKEDEAGEGRFNFSAYGMGPACLQAKDGISVKGANNSNTTNPPPAPSKSPEE
MRKLFIQRAKKIDKISRIGFPMAFLIFNMFYWIIYKIVRREDVHNQ*

Gene Symbol:GLRA1
Accession:XM_047417105
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 246
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGIQPNLEPTLIKGNLYQHEKEPSLTFCSPLFLLSLAASKEAEAARSAPKPMSPSDFLDKLMGRTSGYDARIRPNFKGPP
VNVSCNIFINSFGSIAETTMDYRVNIFLRQQWNDPRLAYNEYPDDSLDLDPSMLDSIWKPDLFFANEKGAHFHEITTDNK
LLRISRNGNVLYSIRITLTLACPMDLKNFPMDVQTCIMQLESFGYTMNDLIFEWQEQGAVQVADGLTLPQFILKEEKDLR
YCTKH*NTGKFTCIEARFHLERQMGYYLIQMYIPSLLIVILSWISFWINMDAAPARVGLGITTVLTMTTQSSGSRASLPK
VSYVKAIDIWMAVCLLFVFSALLEYAAVNFVSRQHKELLRFRRKRRHHKEDEAGEGRFNFSAYGMGPACLQAKDGISVKG
ANNSNTTNPPPAPSKSPEEMRKLFIQRAKKIDKISRIGFPMAFLIFNMFYWIIYKIVRREDVHNQ*
Variant Samples
Additional References at PubMed
PMID:7874121   PMID:8651283   PMID:11702206  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000017447 CLINVAR
dbSNP (RS) rs121918415 CLINVAR
MedGen C4551954 CLINVAR
NCBI Gene GLRA1 CLINVAR
OMIM 138491 CLINVAR
  149400 CLINVAR
OMIM Allele 138491.0010 CLINVAR