rs145829103 Rat Genome Database

rs145829103 Rat Genome Database

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Variant: rs145829103 - Homo sapiens

RGD ID:

28906158

RS ID:

rs145829103

ClinVar ID:

CV879592

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	18	57,013,170
GRCh38	18	59,345,938

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_005570.4:c.936C>T NG_012097.1:g.18339C>T NC_000018.10:g.59345938G>A NC_000018.9:g.57013170G>A More...	05/01/2024	synonymous variant	likely benign	Combined factor V and VIII deficiency; FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY I; FMFD I; MULTIPLE COAGULATION FACTOR DEFICIENCY I; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV879592	Human	Familial Multiple Coagulation Factor Deficiency I		IAGP		8554872	ClinVar Annotator: match by term: FMFD I	ClinVar	PMID:25741868

Gene Symbol:	LMAN1
Accession:	NM_005570
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	312

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAGSRQRGLRARVRPLFCALLLSLGRFVRGDGVGGDPAVALPHRRFEYKYSFKGPHLVQSDGTVPFWAHAGNAIPSSDQI RVAPSLKSQRGSVWTKTKAAFENWEVEVTFRVTGRGRIGADGLAIWYAENQGLEGPVFGSADLWNGVGIFFDSFDNDGKK NNPAIVIIGNNGQIHYDHQNDGASQALASCQRDFRNKPYPVRAKITYYQNTLTVMINNGFTPDKNDYEFCAKVENMIIPA QGHFGISAATGGLADDHDVLSFLTFQLTEPGKEPPTPDKEISEKEKEKYQEEFEHFQQELDKKKEEFQKGHPDLQGQPAE EIFESVGDRELRQVFEGQNRIHLEIKQLNRQLDMILDEQRRYVSSLTEEISKRGAGMPGQHGQITQQELDTVVKTQHEIL RQVNEMKNSMSETVRLVSGMQHPGSAGGVYETTQHFIDIKEHLHIVKRDIDNLVQRNMPSNEKPKCPELPPFPSCLSTVH FIIFVVVQTVLFIGYIMYRSQQEAAAKKFF*

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV001126899	CLINVAR
	RCV002070073	CLINVAR
dbSNP (RS)	rs145829103	CLINVAR
MedGen	C3661900	CLINVAR
	C4551981	CLINVAR
NCBI Gene	LMAN1	CLINVAR
OMIM	227300	CLINVAR
	601567	CLINVAR