rs148071519 Rat Genome Database

rs148071519 Rat Genome Database

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Variant: rs148071519 - Homo sapiens

RGD ID:

11631140

RS ID:

rs148071519

ClinVar ID:

CV347610

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	18	56,998,277
GRCh38	18	59,331,045

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NG_012097.1:g.33232G>A NC_000018.10:g.59331045C>T NC_000018.9:g.56998277C>T NM_005570.4:c.*48G>A More...	01/12/2018	3 prime utr 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)
CV347610	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	RCV000369393	CLINVAR
dbSNP (RS)	rs148071519	CLINVAR
MedGen	C4551981	CLINVAR
NCBI Gene	LMAN1	CLINVAR
OMIM	227300	CLINVAR
	601567	CLINVAR