RGD:156031566 Rat Genome Database

RGD:156031566 Rat Genome Database

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Variant: RGD:156031566 - Homo sapiens

RGD ID:

156031566

ClinVar ID:

CV2274940

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	2	98,274,552
GRCh38	2	97,658,089

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_005735.4:c.779A>C NC_000002.12:g.97658089T>G NC_000002.11:g.98274552T>G NM_005735.3:c.779A>C NP_005726.1:p.Glu260Ala More...	04/27/2022	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	ACTR1B
Accession:	XM_005263854
Location:	EXON
Amino Acid Prediction:	E to A (nonsynonymous)
Amino Acid Position:	186

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHGVVRDWNDMERIWQYVYSKDQLQTFSEEHPVLLTEAPLNPSKNREKAAEVFFETFNVPALFISMQAVLSLYATGRTT GVVLDSGDGVTHAVPIYEGFAMPHSIMRVDIAGRDVSRYLRLLLRKEGVDFHTSAEFEVVRTIKERACYLSINPQKDEAL ETEKVQYTLPDGSTLDVGPARFRAPALLFQPDLVGDESEGLHEVVAFAIHKSDMDLRRTLFANIVLSGGSTLFKGFGDRL LSEVKKLAPKDIKIKISAPQERLYSTWIGGSILASLDTFKKMWVSKKEYEEDGSRAIHRKTF*

Gene Symbol:	ACTR1B
Accession:	XM_017003116
Location:	EXON
Amino Acid Prediction:	E to A (nonsynonymous)
Amino Acid Position:	216

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRVMAGALEGDLFIGPKAEEHRGLLTIRYPMEHGVVRDWNDMERIWQYVYSKDQLQTFSEEHPVLLTEAPLNPSKNREKA AEVFFETFNVPALFISMQAVLSLYATGRTTGVVLDSGDGVTHAVPIYEGFAMPHSIMRVDIAGRDVSRYLRLLLRKEGVD FHTSAEFEVVRTIKERACYLSINPQKDEALETEKVQYTLPDGSTLDVGPARFRAPALLFQPDLVGDESEGLHEVVAFAIH KSDMDLRRTLFANIVLSGGSTLFKGFGDRLLSEVKKLAPKDIKIKISAPQERLYSTWIGGSILASLDTFKKMWVSKKEYE EDGSRAIHRKTF*

Gene Symbol:	ACTR1B
Accession:	NM_005735
Location:	EXON
Amino Acid Prediction:	E to A (nonsynonymous)
Amino Acid Position:	260

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESYDIIANQPVVIDNGSGVIKAGFAGDQIPKYCFPNYVGRPKHMRVMAGALEGDLFIGPKAEEHRGLLTIRYPMEHGVV RDWNDMERIWQYVYSKDQLQTFSEEHPVLLTEAPLNPSKNREKAAEVFFETFNVPALFISMQAVLSLYATGRTTGVVLDS GDGVTHAVPIYEGFAMPHSIMRVDIAGRDVSRYLRLLLRKEGVDFHTSAEFEVVRTIKERACYLSINPQKDEALETEKVQ YTLPDGSTLDVGPARFRAPALLFQPDLVGDESEGLHEVVAFAIHKSDMDLRRTLFANIVLSGGSTLFKGFGDRLLSEVKK LAPKDIKIKISAPQERLYSTWIGGSILASLDTFKKMWVSKKEYEEDGSRAIHRKTF*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004134995	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	ACTR1B	CLINVAR
OMIM	605144	CLINVAR