rs768937406 Rat Genome Database

rs768937406 Rat Genome Database

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Variant: rs768937406 - Homo sapiens

RGD ID:

151779150

RS ID:

rs768937406

ClinVar ID:

CV1392522

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	3	9,934,693
GRCh38	3	9,893,009

JBrowse:

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_1228t1:c.184C>T NM_032492.4:c.184C>T NM_001363890.1:c.22C>T LRG_1228:g.7423C>T More...	08/26/2021	missense variant	uncertain significance	Severe congenital neutropenia 6, autosomal recessive

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1392522	Human	severe congenital neutropenia 6		IAGP		8554872	ClinVar Annotator: match by term: Severe congenital neutropenia 6 and autosomal recessive	ClinVar	PMID:28492532

Gene Symbol:	JAGN1
Accession:	NM_001363890
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	8

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSVGHLRFLSHDQVAMPYQWEYPYLLSILPSLLGLLSFPRNNISYLVLSMISMGLFSIAPLIYGSMEMFPAAQQLYRHGK AYRFLFGFSAVSIMYLVLVLAVQVHAWQLYYSKKLLDSWFTSTQEKKHK*

Gene Symbol:	JAGN1
Accession:	NM_032492
Location:	EXON
Amino Acid Prediction:	L to F (nonsynonymous)
Amino Acid Position:	62

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001897076	CLINVAR
dbSNP (RS)	rs768937406	CLINVAR
MedGen	C4014954	CLINVAR
NCBI Gene	JAGN1	CLINVAR
OMIM	616012	CLINVAR
	616022	CLINVAR