rs587777729 Rat Genome Database

rs587777729 Rat Genome Database

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Variant: rs587777729 - Homo sapiens

RGD ID:

9589525

RS ID:

rs587777729

ClinVar ID:

CV165914

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	3	9,932,469
GRCh38	3	9,890,785

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NC_000003.12:g.9890785G>T NC_000003.11:g.9932469G>T NP_115881.3:p.Glu21Asp NG_041779.1:g.5199G>T More...	06/21/2023	5 prime utr variant\|missense variant	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	infancy\|neonatal	<1 / 1 000 000	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Severe congenital neutropenia 6, autosomal recessive

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV165914	Human	severe congenital neutropenia		IAGP		8554872	ClinVar Annotator: match by term: Severe congenital neutropenia	ClinVar	PMID:25129144 more ...
CV165914	Human	severe congenital neutropenia 6		IAGP		8554872	ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	ClinVar	PMID:25129144 more ...

Gene Symbol:	JAGN1
Accession:	NM_001363890
Location:	5UTRS;EXON

Gene Symbol:	JAGN1
Accession:	NM_032492
Location:	EXON
Amino Acid Prediction:	E to D (nonsynonymous)
Amino Acid Position:	21

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASRAGPRAAGTDGSDFQHRDRVAMHYQMSVTLKYEIKKLIYVHLVIWLLLVAKMSVGHLRLLSHDQVAMPYQWEYPYLL SILPSLLGLLSFPRNNISYLVLSMISMGLFSIAPLIYGSMEMFPAAQQLYRHGKAYRFLFGFSAVSIMYLVLVLAVQVHA WQLYYSKKLLDSWFTSTQEKKHK*

ClinVar GRCh37	ClinVar GRCh38

PMID:25129144	PMID:25741868	PMID:28492532	PMID:30443436	PMID:31031743	PMID:33206996

Database	Acc Id	Source(s)
ClinVar	RCV000144164	CLINVAR
	RCV000170606	CLINVAR
	RCV001268772	CLINVAR
dbSNP (RS)	rs587777729	CLINVAR
MedGen	C1853118	CLINVAR
	C3661900	CLINVAR
	C4014954	CLINVAR
NCBI Gene	JAGN1	CLINVAR
OMIM	616012	CLINVAR
	616022	CLINVAR
OMIM Allele	616012.0003	CLINVAR