RGD:405211708 Rat Genome Database

RGD:405211708 Rat Genome Database

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Variant: RGD:405211708 - Homo sapiens

RGD ID:

405211708

ClinVar ID:

CV2974332

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	15	72,767,138
GRCh38	15	72,474,797

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_005744.5:c.158G>A NC_000015.10:g.72474797G>A NC_000015.9:g.72767138G>A NP_005735.2:p.Gly53Asp	12/18/2023	missense variant	uncertain significance	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:	ARIH1
Accession:	NM_005744
Location:	EXON
Amino Acid Prediction:	G to D (nonsynonymous)
Amino Acid Position:	53

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDSDEGYNYEFDEDEECSEEDSGAEEEEDEDDDEPDDDTLDLGEVELVEPGLDVGGERDGLLCGETGGGGGSALGPGGGG GGGGGGGGGGPGHEQEEDYRYEVLTAEQILQHMVECIREVNEVIQNPATITRILLSHFNWDKEKLMERYFDGNLEKLFAE CHVINPSKKSRTRQMNTRSSAQDMPCQICYLNYPNSYFTGLECGHKFCMQCWSEYLTTKIMEEGMGQTISCPAHGCDILV DDNTVMRLITDSKVKLKYQHLITNSFVECNRLLKWCPAPDCHHVVKVQYPDAKPVRCKCGRQFCFNCGENWHDPVKCKWL KKWIKKCDDDSETSNWIAANTKECPKCHVTIEKDGGCNHMVCRNQNCKAEFCWVCLGPWEPHGSAWYNCNRYNEDDAKAA RDAQERSRAALQRYLFYCNRYMNHMQSLRFEHKLYAQVKQKMEEMQQHNMSWIEVQFLKKAVDVLCQCRATLMYTYVFAF YLKKNNQSIIFENNQADLENATEVLSGYLERDISQDSLQDIKQKVQDKYRYCESRRRVLLQHVHEGYEKDLWEYIED*

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003679493	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	ARIH1	CLINVAR
OMIM	605624	CLINVAR