rs1263821261 Rat Genome Database

rs1263821261 Rat Genome Database

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Variant: rs1263821261 - Homo sapiens

RGD ID:

28905754

RS ID:

rs1263821261

ClinVar ID:

CV879556

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	18	56,995,655
GRCh38	18	59,328,423

JBrowse:

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_005570.4:c.*2670G>C NG_012097.1:g.35854G>C NC_000018.10:g.59328423C>G NC_000018.9:g.56995655C>G More...	01/13/2018	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)
CV879556	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	RCV001126690	CLINVAR
dbSNP (RS)	rs1263821261	CLINVAR
MedGen	C4551981	CLINVAR
NCBI Gene	LMAN1	CLINVAR
OMIM	227300	CLINVAR
	601567	CLINVAR