RGD:329393010 Rat Genome Database

RGD:329393010 Rat Genome Database

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Variant: RGD:329393010 - Homo sapiens

RGD ID:

329393010

ClinVar ID:

CV2449437

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	4	8,284,188
GRCh38	4	8,282,461

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001297559.3:c.410G>A NM_053044.5:c.410G>A NC_000004.12:g.8282461G>A NC_000004.11:g.8284188G>A More...	02/16/2023	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	HTRA3
Accession:	NM_053044
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	137

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQARALLLAALAALALAREPPAAPCPARCDVSRCPSPRCPGGYVPDLCNCCLVCAASEGEPCGGPLDSPCGESLECVRGL CRCRWSHAVCGTDGHTYANVCALQAASRRALQLSGTPVRQLQKGACPLGLHQLSSPHYKFNFIADVVEKIAPAVVHIELF LRHPLFGRNVPLSSGSGFIMSEAGLIITNAHVVSSNSAAPGRQQLKVQLQNGDSYEATIKDIDKKSDIATIKIHPKKKLP VLLLGHSADLRPGEFVVAIGSPFALQNTVTTGIVSTAQREGRELGLRDSDMDYIQTDAIINYGNSGGPLVNLDGEVIGIN TLKVTAGISFAIPSDRITRFLTEFQDKQIKDWKKRFIGIRMRTITPSLVDELKASNPDFPEVSSGIYVQEVAPNSPSQRG GIQDGDIIVKVNGRPLVDSSELQEAVLTESPLLLEVRRGNDDLLFSIAPEVVM*

Gene Symbol:	HTRA3
Accession:	NM_001297559
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	137

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQARALLLAALAALALAREPPAAPCPARCDVSRCPSPRCPGGYVPDLCNCCLVCAASEGEPCGGPLDSPCGESLECVRGL CRCRWSHAVCGTDGHTYANVCALQAASRRALQLSGTPVRQLQKGACPLGLHQLSSPHYKFNFIADVVEKIAPAVVHIELF LRHPLFGRNVPLSSGSGFIMSEAGLIITNAHVVSSNSAAPGRQQLKVQLQNGDSYEATIKDIDKKSDIATIKIHPKKKLP VLLLGHSADLRPGEFVVAIGSPFALQNTVTTGIVSTAQREGRELGLRDSDMDYIQTDAIINYGNSGGPLVNLDGEVIGIN TLKVTAGISFAIPSDRITRFLTEFQDKQIKAPSLAVH*

Gene Symbol:	HTRA3
Accession:	XM_011513596
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	137

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQARALLLAALAALALAREPPAAPCPARCDVSRCPSPRCPGGYVPDLCNCCLVCAASEGEPCGGPLDSPCGESLECVRGL CRCRWSHAVCGTDGHTYANVCALQAASRRALQLSGTPVRQLQKGACPLGLHQLSSPHYKFNFIADVVEKIAPAVVHIELF LRHPLFGRNVPLSSGSGFIMSEAGLIITNAHVVSSNSAAPGRQQLKVQLQNGDSYEATIKDIDKKSDIATIKIHPKKKLP VLLLGHSADLRPGEFVVAIGSPFALQNTVTTGIVSTAQREGRELGLRDSDMDYIQTDAIINYGNSGGPLVNLDGEVIGIN TLKVTAGISFAIPSDRITRFLTEFQDKQIKAKHMDPSAAKAGAMRAGHMKSCC*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004266596	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	HTRA3	CLINVAR
OMIM	608785	CLINVAR