rs869312861 Rat Genome Database

rs869312861 Rat Genome Database

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Variant: rs869312861 - Homo sapiens

RGD ID:

11051513

RS ID:

rs869312861

ClinVar ID:

CV226647

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	5	160,761,837
GRCh38	5	161,334,830

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000005.10:g.161334830G>C NC_000005.9:g.160761837G>C NP_068711.1:p.Pro252Ala NG_047050.1:g.218295C>G More...	06/01/2022	missense variant	likely pathogenic	Epileptic encephalopathy, infantile or early childhood, 2

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV226647	Human	Cerebral Visual Impairment and Intellectual Disability		IAGP		8554872	ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability	ClinVar	PMID:26350515 and PMID:39825153
CV226647	Human	developmental and epileptic encephalopathy 92		IAGP		8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 92	ClinVar	PMID:26350515 and PMID:39825153

Gene Symbol:	GABRB2
Accession:	NM_001371727
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	252

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

Gene Symbol:	GABRB2
Accession:	NM_000813
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	252

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWRVRKRGYFGIWSFPLIIAAVCAQSVNDPSNMSLVKETVDRLLKGYDIRLRPDFGGPPVAVGMNIDIASIDMVSEVNMD YTLTMYFQQAWRDKRLSYNVIPLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAAC MMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWRGDDNAVTGVTKIELPQFSIVDYKLITKKVVFSTGSYPRLSLSFKLKR NIGYFILQTYMASILITILSWVSFWINYDASAARVALGITTVLTMTTINTHLRETLPKIPYVKAIDMYLMGCFVFVFMAL LEYALVNYIFFGRGPQRQKKAAEKAASANNEKMRLDVNKMDPHENILLSTLEIKNEMATSEAVMGLGDPRSTMLAYDASS IQYRKAGLPRHSFGRNALERHVAQKKSRLRRRASQLKITIPDLTDVNAIDRWSRIFFPVVFSFFNIVYWLYYVN*

Gene Symbol:	GABRB2
Accession:	NM_021911
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	252

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

ClinVar GRCh37	ClinVar GRCh38

PMID:26350515	PMID:39825153

Database	Acc Id	Source(s)
ClinVar	RCV000210398	CLINVAR
	RCV004767158	CLINVAR
dbSNP (RS)	rs869312861	CLINVAR
MedGen	C4693362	CLINVAR
	CN235864	CLINVAR
NCBI Gene	GABRB2	CLINVAR
OMIM	600232	CLINVAR
	617829	CLINVAR