RGD:404978084 Rat Genome Database

RGD:404978084 Rat Genome Database

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Variant: RGD:404978084 - Homo sapiens

RGD ID:

404978084

ClinVar ID:

CV2852119

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	15	72,767,214
GRCh38	15	72,474,873

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_005744.5:c.234T>G NC_000015.10:g.72474873T>G NC_000015.9:g.72767214T>G NM_005744.3:c.234T>G NP_005735.2:p.Gly78= More...	11/25/2022	synonymous variant	likely benign	Thoracic aortic aneurysms and dissections

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2852119	Human	thoracic aortic aneurysm		IAGP		8554872	ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	ClinVar	PMID:25741868

Gene Symbol:	ARIH1
Accession:	NM_005744
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	78

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

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV003486436	CLINVAR
MedGen	C4707243	CLINVAR
NCBI Gene	ARIH1	CLINVAR
OMIM	605624	CLINVAR