RGD:407492139 Rat Genome Database

RGD:407492139 Rat Genome Database

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Variant: RGD:407492139 - Homo sapiens

RGD ID:

407492139

ClinVar ID:

CV3428700

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	10	104,244,000
GRCh38	10	102,484,243

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_005736.4:c.574C>T NG_011901.1:g.23513C>T NC_000010.11:g.102484243G>A NC_000010.10:g.104244000G>A More...	03/21/2024	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	ACTR1A
Accession:	NM_005736
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	192

Amino Acid Sequence (Calculated using NCBI transcript definition)
MESYDVIANQPVVIDNGSGVIKAGFAGDQIPKYCFPNYVGRPKHVRVMAGALEGDIFIGPKAEEHRGLLSIRYPMEHGIV KDWNDMERIWQYVYSKDQLQTFSEEHPVLLTEAPLNPRKNRERAAEVFFETFNVPALFISMQAVLSLYATGRTTGVVLDS GDGVTHAVPIYEGFAMPHSIMRIDIAGRDVSCFLRLYLRKEGYDFHSSSEFEIVKAIKERACYLSINPQKDETLETEKAQ YYLPDGSTIEIGPSRFRAPELLFRPDLIGEESEGIHEVLVFAIQKSDMDLRRTLFSNIVLSGGSTLFKGFGDRLLSEVKK LAPKDVKIRISAPQERLYSTWIGGSILASLDTFKKMWVSKKEYEEDGARSIHRKTF*

Gene Symbol:	ACTR1A
Accession:	XM_047424427
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	145

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGALEGDIFIGPKAEEHRGLLSIRYPMEHGIVKDWNDMERIWQYVYSKDQLQTFSEEHPVLLTEAPLNPRKNRERAAEV FFETFNVPALFISMQAVLSLYATGRTTGVVLDSGDGVTHAVPIYEGFAMPHSIMRIDIAGRDVSCFLRLYLRKEGYDFHS SSEFEIVKAIKERACYLSINPQKDETLETEKAQYYLPDGSTIEIGPSRFRAPELLFRPDLIGEESEGIHEVLVFAIQKSD MDLRRTLFSNIVLSGGSTLFKGFGDRLLSEVKKLAPKDVKIRISAPQERLYSTWIGGSILASLDTFKKMWVSKKEYEEDG ARSIHRKTF*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004604891	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	ACTR1A	CLINVAR
OMIM	605143	CLINVAR