RGD:13811519 Rat Genome Database

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Variant: RGD:13811519 -  Homo sapiens

RGD ID: 13811519
RS ID: rs202183786
ClinVar ID: CV564983
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GABRB2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 160,753,448
GRCh38 5 161,326,441
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_047050.1:g.226684G>A
NC_000005.10:g.161326441C>T
NC_000005.9:g.160753448C>T
NP_068711.1:p.Arg373Gln
More... 		01/26/2021 intron variant benign|likely benign|uncertain significance Intellectual developmental disorder; intellectual disabilities; Intellectual functioning disability; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:GABRB2
Accession:NM_001371727
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 373
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWRVRKRGYFGIWSFPLIIAAVCAQSVNDPSNMSLVKETVDRLLKGYDIRLRPDFGGPPVAVGMNIDIASIDMVSEVNMD
YTLTMYFQQAWRDKRLSYNVIPLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAAC
MMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWRGDDNAVTGVTKIELPQFSIVDYKLITKKVVFSTGSYPRLSLSFKLKR
NIGYFILQTYMPSILITILSWVSFWINYDASAARVALGITTVLTMTTINTHLRETLPKIPYVKAIDMYLMGCFVFVFMAL
LEYALVNYIFFGRGPQRQKKAAEKAASANNEKMRLDVNKIFYKDIKQNGTQYQSLWDPTGNLSPTRRTTNYDFSLYTMDP
HENILLSTLEIKNEMATSEAVMGLGDPRSTMLAYDASSIQYRKAGLPRHSFGRNALERHVAQKKSRLRRRASQLKITIPD
LTDVNAIDRWSRIFFPVVFSFFNIVYWLYYVN*

Gene Symbol:GABRB2
Accession:NM_021911
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 373
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWRVRKRGYFGIWSFPLIIAAVCAQSVNDPSNMSLVKETVDRLLKGYDIRLRPDFGGPPVAVGMNIDIASIDMVSEVNMD
YTLTMYFQQAWRDKRLSYNVIPLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAAC
MMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWRGDDNAVTGVTKIELPQFSIVDYKLITKKVVFSTGSYPRLSLSFKLKR
NIGYFILQTYMPSILITILSWVSFWINYDASAARVALGITTVLTMTTINTHLRETLPKIPYVKAIDMYLMGCFVFVFMAL
LEYALVNYIFFGRGPQRQKKAAEKAASANNEKMRLDVNKIFYKDIKQNGTQYQSLWDPTGNLSPTRRTTNYDFSLYTMDP
HENILLSTLEIKNEMATSEAVMGLGDPRSTMLAYDASSIQYRKAGLPRHSFGRNALERHVAQKKSRLRRRASQLKITIPD
LTDVNAIDRWSRIFFPVVFSFFNIVYWLYYVN*

Gene Symbol:GABRB2
Accession:NM_000813
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000688802 CLINVAR
  RCV001592873 CLINVAR
dbSNP (RS) rs202183786 CLINVAR
MedGen C3661900 CLINVAR
  C3714756 CLINVAR
NCBI Gene GABRB2 CLINVAR
OMIM 600232 CLINVAR
SNOMED CT 228156007 CLINVAR