rs1348071716 Rat Genome Database

rs1348071716 Rat Genome Database

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Variant: rs1348071716 - Homo sapiens

RGD ID:

28885160

RS ID:

rs1348071716

ClinVar ID:

CV859412

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	5	160,753,461
GRCh38	5	161,326,454

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000005.10:g.161326454C>T NM_000813.3:c.1077+4429G>A NM_001371727.1:c.1105G>A NG_047050.1:g.226671G>A More...	10/01/2019	intron variant	uncertain significance	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:	GABRB2
Accession:	NM_021911
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	369

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

Gene Symbol:	GABRB2
Accession:	NM_001371727
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	369

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

Gene Symbol:	GABRB2
Accession:	NM_000813
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV001091689	CLINVAR
dbSNP (RS)	rs1348071716	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	GABRB2	CLINVAR
OMIM	600232	CLINVAR