RGD:401797828 Rat Genome Database

RGD:401797828 Rat Genome Database

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Variant: RGD:401797828 - Homo sapiens

RGD ID:

401797828

ClinVar ID:

CV2740993

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	15	72,810,415
GRCh38	15	72,518,074

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000015.10:g.72518074C>G NP_005735.2:p.Ala128Gly NC_000015.9:g.72810415C>G NM_005744.5:c.383C>G	08/11/2021	missense variant	uncertain significance	none provided

Gene Symbol:	ARIH1
Accession:	NM_005744
Location:	EXON
Amino Acid Prediction:	A to G (nonsynonymous)
Amino Acid Position:	128

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

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV003322157	CLINVAR
MedGen	CN517202	CLINVAR
NCBI Gene	ARIH1	CLINVAR
OMIM	605624	CLINVAR