rs886054038 Rat Genome Database

rs886054038 Rat Genome Database

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

Advanced Search (OLGA)

Variant: rs886054038 - Homo sapiens

RGD ID:

11661571

RS ID:

rs886054038

ClinVar ID:

CV347618

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	18	57,020,533
GRCh38	18	59,353,301

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NG_012097.1:g.10976T>G NC_000018.10:g.59353301A>C NC_000018.9:g.57020533A>C NP_005561.1:p.Asn180Lys More...	01/13/2018	missense variant	uncertain significance	all ages	1-9 / 1 000 000	Combined factor V and VIII deficiency; FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY I; FMFD I; MULTIPLE COAGULATION FACTOR DEFICIENCY I

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV347618	Human	Familial Multiple Coagulation Factor Deficiency I		IAGP		8554872	ClinVar Annotator: match by term: FMFD I	ClinVar

Gene Symbol:	LMAN1
Accession:	NM_005570
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV000377974	CLINVAR
dbSNP (RS)	rs886054038	CLINVAR
MedGen	C4551981	CLINVAR
NCBI Gene	LMAN1	CLINVAR
OMIM	227300	CLINVAR
	601567	CLINVAR