RGD:402523814 Rat Genome Database

RGD:402523814 Rat Genome Database

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Variant: RGD:402523814 - Homo sapiens

RGD ID:

402523814

ClinVar ID:

CV2940408

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	15	72,837,301
GRCh38	15	72,544,960

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_005744.5:c.584A>C NC_000015.10:g.72544960A>C NC_000015.9:g.72837301A>C NP_005735.2:p.Asn195Thr	06/09/2023	missense variant	uncertain significance	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:	ARIH1
Accession:	NM_005744
Location:	EXON
Amino Acid Prediction:	N to T (nonsynonymous)
Amino Acid Position:	195

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003663504	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	ARIH1	CLINVAR
OMIM	605624	CLINVAR