rs749081325 Rat Genome Database

rs749081325 Rat Genome Database

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

Advanced Search (OLGA)

Variant: rs749081325 - Homo sapiens

RGD ID:

28897532

RS ID:

rs749081325

ClinVar ID:

CV879599

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LMAN1 LOC130062607

Reference Nucleotide:

C

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	18	57,026,371
GRCh38	18	59,359,139

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_005570.4:c.106G>C NG_012097.1:g.5138G>C NC_000018.10:g.59359139C>G NC_000018.9:g.57026371C>G More...	01/13/2018	missense 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)
CV879599	Human	Familial Multiple Coagulation Factor Deficiency I		IAGP		8554872	ClinVar Annotator: match by term: FMFD I	ClinVar

Gene Symbol:	LMAN1
Accession:	NM_005570
Location:	EXON
Amino Acid Prediction:	D to H (nonsynonymous)
Amino Acid Position:	36

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV001123235	CLINVAR
dbSNP (RS)	rs749081325	CLINVAR
MedGen	C4551981	CLINVAR
NCBI Gene	LMAN1	CLINVAR
	LOC130062607	CLINVAR
OMIM	227300	CLINVAR
	601567	CLINVAR