RGD:13474777 Rat Genome Database

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Variant: RGD:13474777 -  Homo sapiens

RGD ID: 13474777
RS ID: rs376426309
ClinVar ID: CV455330
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GLRA1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 151,304,061
GRCh38 5 151,924,500
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001146040.2:c.50T>C
NG_011764.1:g.5337T>C
NM_000171.4:c.50T>C
NC_000005.10:g.151924500A>G
More... 		10/31/2018 5 prime utr variant|missense variant conflicting interpretations of pathogenicity|uncertain significance HYPEREKPLEXIA 1, AUTOSOMAL DOMINANT; HYPEREKPLEXIA 1, AUTOSOMAL RECESSIVE; Hyperexplexia, hereditary; 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_001292000
Location:5UTRS;EXON

Gene Symbol:GLRA1
Accession:NM_001146040
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYSFNTLRLYLWETIVSFSLAASKEAEAARSAPKPMSPSDFLDKLMGRTSGYDARIRPNFKGPPVNVSCNIFINSFGSIA
ETTMDYRVNIFLRQQWNDPRLAYNEYPDDSLDLDPSMLDSIWKPDLFFANEKGAHFHEITTDNKLLRISRNGNVLYSIRI
TLTLACPMDLKNFPMDVQTCIMQLESFGYTMNDLIFEWQEQGAVQVADGLTLPQFILKEEKDLRYCTKHYNTGKFTCIEA
RFHLERQMGYYLIQMYIPSLLIVILSWISFWINMDAAPARVGLGITTVLTMTTQSSGSRASLPKVSYVKAIDIWMAVCLL
FVFSALLEYAAVNFVSRQHKELLRFRRKRRHHKSPMLNLFQEDEAGEGRFNFSAYGMGPACLQAKDGISVKGANNSNTTN
PPPAPSKSPEEMRKLFIQRAKKIDKISRIGFPMAFLIFNMFYWIIYKIVRREDVHNQ*

Gene Symbol:GLRA1
Accession:NM_000171
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYSFNTLRLYLWETIVSFSLAASKEAEAARSAPKPMSPSDFLDKLMGRTSGYDARIRPNFKGPPVNVSCNIFINSFGSIA
ETTMDYRVNIFLRQQWNDPRLAYNEYPDDSLDLDPSMLDSIWKPDLFFANEKGAHFHEITTDNKLLRISRNGNVLYSIRI
TLTLACPMDLKNFPMDVQTCIMQLESFGYTMNDLIFEWQEQGAVQVADGLTLPQFILKEEKDLRYCTKHYNTGKFTCIEA
RFHLERQMGYYLIQMYIPSLLIVILSWISFWINMDAAPARVGLGITTVLTMTTQSSGSRASLPKVSYVKAIDIWMAVCLL
FVFSALLEYAAVNFVSRQHKELLRFRRKRRHHKEDEAGEGRFNFSAYGMGPACLQAKDGISVKGANNSNTTNPPPAPSKS
PEEMRKLFIQRAKKIDKISRIGFPMAFLIFNMFYWIIYKIVRREDVHNQ*

Gene Symbol:GLRA1
Accession:XM_047417105
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000525987 CLINVAR
  RCV002231755 CLINVAR
dbSNP (RS) rs376426309 CLINVAR
MedGen C1835614 CLINVAR
  C4551954 CLINVAR
NCBI Gene GLRA1 CLINVAR
OMIM 138491 CLINVAR
  149400 CLINVAR