RGD:405761648 Rat Genome Database

RGD:405761648 Rat Genome Database

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Variant: RGD:405761648 - Homo sapiens

RGD ID:

405761648

ClinVar ID:

CV3300232

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	2	98,275,441
GRCh38	2	97,658,978

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_005735.4:c.341C>T NC_000002.12:g.97658978G>A NC_000002.11:g.98275441G>A NM_005735.3:c.341C>T NP_005726.1:p.Pro114Leu More...	03/01/2024	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	ACTR1B
Accession:	XM_005263854
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHGVVRDWNDMERIWQYVYSKDQLQTFSEEHPVLLTEALLNPSKNREKAAEVFFETFNVPALFISMQAVLSLYATGRTT GVVLDSGDGVTHAVPIYEGFAMPHSIMRVDIAGRDVSRYLRLLLRKEGVDFHTSAEFEVVRTIKERACYLSINPQKDEAL ETEKVQYTLPDGSTLDVGPARFRAPELLFQPDLVGDESEGLHEVVAFAIHKSDMDLRRTLFANIVLSGGSTLFKGFGDRL LSEVKKLAPKDIKIKISAPQERLYSTWIGGSILASLDTFKKMWVSKKEYEEDGSRAIHRKTF*

Gene Symbol:	ACTR1B
Accession:	XM_017003116
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	70

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRVMAGALEGDLFIGPKAEEHRGLLTIRYPMEHGVVRDWNDMERIWQYVYSKDQLQTFSEEHPVLLTEALLNPSKNREKA AEVFFETFNVPALFISMQAVLSLYATGRTTGVVLDSGDGVTHAVPIYEGFAMPHSIMRVDIAGRDVSRYLRLLLRKEGVD FHTSAEFEVVRTIKERACYLSINPQKDEALETEKVQYTLPDGSTLDVGPARFRAPELLFQPDLVGDESEGLHEVVAFAIH KSDMDLRRTLFANIVLSGGSTLFKGFGDRLLSEVKKLAPKDIKIKISAPQERLYSTWIGGSILASLDTFKKMWVSKKEYE EDGSRAIHRKTF*

Gene Symbol:	ACTR1B
Accession:	NM_005735
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESYDIIANQPVVIDNGSGVIKAGFAGDQIPKYCFPNYVGRPKHMRVMAGALEGDLFIGPKAEEHRGLLTIRYPMEHGVV RDWNDMERIWQYVYSKDQLQTFSEEHPVLLTEALLNPSKNREKAAEVFFETFNVPALFISMQAVLSLYATGRTTGVVLDS GDGVTHAVPIYEGFAMPHSIMRVDIAGRDVSRYLRLLLRKEGVDFHTSAEFEVVRTIKERACYLSINPQKDEALETEKVQ YTLPDGSTLDVGPARFRAPELLFQPDLVGDESEGLHEVVAFAIHKSDMDLRRTLFANIVLSGGSTLFKGFGDRLLSEVKK LAPKDIKIKISAPQERLYSTWIGGSILASLDTFKKMWVSKKEYEEDGSRAIHRKTF*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004433749	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	ACTR1B	CLINVAR
OMIM	605144	CLINVAR