rs78789939 Rat Genome Database

rs78789939 Rat Genome Database

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Variant: rs78789939 - Homo sapiens

RGD ID:

26905442

RS ID:

rs78789939

ClinVar ID:

CV830586

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	5	160,721,423
GRCh38	5	161,294,416

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_021911.3:c.1204G>A NP_068711.1:p.Glu402Lys NM_021911.2:c.1204G>A NM_000813.3:c.1090G>A More...	10/25/2022	missense variant	benign\|uncertain significance	Intellectual developmental disorder; intellectual disabilities; Intellectual functioning disability

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV830586	Human	intellectual disability		IAGP		8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV830586	Human	Intellectual disability		IAGP		8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:28492532

Gene Symbol:	GABRB2
Accession:	NM_021911
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	402

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWRVRKRGYFGIWSFPLIIAAVCAQSVNDPSNMSLVKETVDRLLKGYDIRLRPDFGGPPVAVGMNIDIASIDMVSEVNMD YTLTMYFQQAWRDKRLSYNVIPLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAAC MMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWRGDDNAVTGVTKIELPQFSIVDYKLITKKVVFSTGSYPRLSLSFKLKR NIGYFILQTYMPSILITILSWVSFWINYDASAARVALGITTVLTMTTINTHLRETLPKIPYVKAIDMYLMGCFVFVFMAL LEYALVNYIFFGRGPQRQKKAAEKAASANNEKMRLDVNKIFYKDIKQNGTQYRSLWDPTGNLSPTRRTTNYDFSLYTMDP HKNILLSTLEIKNEMATSEAVMGLGDPRSTMLAYDASSIQYRKAGLPRHSFGRNALERHVAQKKSRLRRRASQLKITIPD LTDVNAIDRWSRIFFPVVFSFFNIVYWLYYVN*

Gene Symbol:	GABRB2
Accession:	NM_001371727
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	402

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWRVRKRGYFGIWSFPLIIAAVCAQSVNDPSNMSLVKETVDRLLKGYDIRLRPDFGGPPVAVGMNIDIASIDMVSEVNMD YTLTMYFQQAWRDKRLSYNVIPLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAAC MMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWRGDDNAVTGVTKIELPQFSIVDYKLITKKVVFSTGSYPRLSLSFKLKR NIGYFILQTYMPSILITILSWVSFWINYDASAARVALGITTVLTMTTINTHLRETLPKIPYVKAIDMYLMGCFVFVFMAL LEYALVNYIFFGRGPQRQKKAAEKAASANNEKMRLDVNKIFYKDIKQNGTQYRSLWDPTGNLSPTRRTTNYDFSLYTMDP HKNILLSTLEIKNEMATSEAVMGLGDPRSTMLAYDASSIQYRKAGLPRHSFGRNALERHVAQKKSRLRRRASQLKITIPD LTDVNAIDRWSRIFFPVVFSFFNIVYWLYYVN*

Gene Symbol:	GABRB2
Accession:	NM_000813
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	364

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWRVRKRGYFGIWSFPLIIAAVCAQSVNDPSNMSLVKETVDRLLKGYDIRLRPDFGGPPVAVGMNIDIASIDMVSEVNMD YTLTMYFQQAWRDKRLSYNVIPLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAAC MMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWRGDDNAVTGVTKIELPQFSIVDYKLITKKVVFSTGSYPRLSLSFKLKR NIGYFILQTYMPSILITILSWVSFWINYDASAARVALGITTVLTMTTINTHLRETLPKIPYVKAIDMYLMGCFVFVFMAL LEYALVNYIFFGRGPQRQKKAAEKAASANNEKMRLDVNKMDPHKNILLSTLEIKNEMATSEAVMGLGDPRSTMLAYDASS IQYRKAGLPRHSFGRNALERHVAQKKSRLRRRASQLKITIPDLTDVNAIDRWSRIFFPVVFSFFNIVYWLYYVN*

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001058446	CLINVAR
dbSNP (RS)	rs78789939	CLINVAR
MedGen	C3714756	CLINVAR
NCBI Gene	GABRB2	CLINVAR
OMIM	600232	CLINVAR
SNOMED CT	228156007	CLINVAR