rs2070737289 Rat Genome Database

rs2070737289 Rat Genome Database

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Variant: rs2070737289 - Homo sapiens

RGD ID:

28905962

RS ID:

rs2070737289

ClinVar ID:

CV879571

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	18	56,997,161
GRCh38	18	59,329,929

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_005570.4:c.*1164A>G NG_012097.1:g.34348A>G NC_000018.10:g.59329929T>C NC_000018.9:g.56997161T>C More...	01/12/2018	3 prime utr variant	uncertain significance	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)
CV879571	Human	Familial Multiple Coagulation Factor Deficiency I		IAGP		8554872	ClinVar Annotator: match by term: FMFD I	ClinVar

Gene Symbol:	LMAN1
Accession:	NM_005570
Location:	3UTRS;EXON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV001126794	CLINVAR
dbSNP (RS)	rs2070737289	CLINVAR
MedGen	C4551981	CLINVAR
NCBI Gene	LMAN1	CLINVAR
OMIM	227300	CLINVAR
	601567	CLINVAR