rs2964779 Rat Genome Database

rs2964779 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: rs2964779 - Homo sapiens

RGD ID:

12833839

RS ID:

rs2964779

ClinVar ID:

CV368469

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	5	160,886,650
GRCh38	5	161,459,644

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_047050.1:g.93481C>G NC_000005.10:g.161459644G>C NC_000005.9:g.160886650G>C NP_068711.1:p.Gly146= More...	01/30/2024	synonymous variant	benign	AllHighlyPenetrant; GABRB2-related condition; Intellectual developmental disorder; intellectual disabilities; Intellectual functioning disability; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV368469	Human	intellectual disability		IAGP		8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:26467025 and PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV368469	Human	Intellectual disability		IAGP		8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:26467025 and PMID:28492532

Gene Symbol:	GABRB2
Accession:	NM_000813
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	146

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

Gene Symbol:	GABRB2
Accession:	NM_001371727
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	146

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

Gene Symbol:	GABRB2
Accession:	NM_021911
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	146

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

ClinVar GRCh37	ClinVar GRCh38

PMID:26467025	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000419272	CLINVAR
	RCV000711723	CLINVAR
	RCV001085368	CLINVAR
	RCV003902531	CLINVAR
dbSNP (RS)	rs2964779	CLINVAR
MedGen	C3661900	CLINVAR
	C3714756	CLINVAR
	CN169374	CLINVAR
NCBI Gene	GABRB2	CLINVAR
OMIM	600232	CLINVAR
SNOMED CT	228156007	CLINVAR