rs886054038 Rat Genome Database

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Variant: rs886054038 -  Homo sapiens

RGD ID: 11661571
RS ID: rs886054038
ClinVar ID: CV347618
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMAN1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 18 57,020,533
GRCh38 18 59,353,301
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012097.1:g.10976T>G
NC_000018.10:g.59353301A>C
NC_000018.9:g.57020533A>C
NP_005561.1:p.Asn180Lys
More... 		01/13/2018 missense 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LMAN1
Accession:NM_005570
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000377974 CLINVAR
dbSNP (RS) rs886054038 CLINVAR
MedGen C4551981 CLINVAR
NCBI Gene LMAN1 CLINVAR
OMIM 227300 CLINVAR
  601567 CLINVAR