RGD:401866348 Rat Genome Database

RGD:401866348 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: RGD:401866348 - Homo sapiens

RGD ID:

401866348

ClinVar ID:

CV2782790

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	4	8,304,201
GRCh38	4	8,302,474

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_053044.5:c.1063C>T NC_000004.12:g.8302474C>T NC_000004.11:g.8304201C>T NM_053044.3:c.1063C>T NP_444272.1:p.Arg355Cys More...	08/21/2023	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	HTRA3
Accession:	NM_053044
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	355

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQARALLLAALAALALAREPPAAPCPARCDVSRCPSPRCPGGYVPDLCNCCLVCAASEGEPCGGPLDSPCGESLECVRGL CRCRWSHAVCGTDGHTYANVCALQAASRRALQLSGTPVRQLQKGACPLGLHQLSSPRYKFNFIADVVEKIAPAVVHIELF LRHPLFGRNVPLSSGSGFIMSEAGLIITNAHVVSSNSAAPGRQQLKVQLQNGDSYEATIKDIDKKSDIATIKIHPKKKLP VLLLGHSADLRPGEFVVAIGSPFALQNTVTTGIVSTAQREGRELGLRDSDMDYIQTDAIINYGNSGGPLVNLDGEVIGIN TLKVTAGISFAIPSDRITRFLTEFQDKQIKDWKKCFIGIRMRTITPSLVDELKASNPDFPEVSSGIYVQEVAPNSPSQRG GIQDGDIIVKVNGRPLVDSSELQEAVLTESPLLLEVRRGNDDLLFSIAPEVVM*

Gene Symbol:	HTRA3
Accession:	NM_001297559
Location:	INTRON

Gene Symbol:	HTRA3
Accession:	XM_011513596
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004361607	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	HTRA3	CLINVAR
OMIM	608785	CLINVAR