rs1554102156 Rat Genome Database

rs1554102156 Rat Genome Database

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Variant: rs1554102156 - Homo sapiens

RGD ID:

13473521

RS ID:

rs1554102156

ClinVar ID:

CV443738

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	5	160,886,666
GRCh38	5	161,459,660

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_000813.3:c.422G>A NP_000804.1:p.Arg141His NC_000005.9:g.160886666C>T NP_068711.1:p.Arg141His More...	08/18/2017	missense variant	uncertain significance	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)
CV443738	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
CV443738	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)
CV443738	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:	R to H (nonsynonymous)
Amino Acid Position:	141

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

Gene Symbol:	GABRB2
Accession:	NM_001371727
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	141

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

Gene Symbol:	GABRB2
Accession:	NM_000813
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	141

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000519406	CLINVAR
	RCV001266782	CLINVAR
	RCV001341154	CLINVAR
dbSNP (RS)	rs1554102156	CLINVAR
MedGen	C0950123	CLINVAR
	C3661900	CLINVAR
	C3714756	CLINVAR
NCBI Gene	GABRB2	CLINVAR
OMIM	600232	CLINVAR
SNOMED CT	228156007	CLINVAR