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: LMAN1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 56,998,277
GRCh38 18 59,331,045
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.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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LMAN1
Accession:NM_005570
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000369393 CLINVAR
dbSNP (RS) rs148071519 CLINVAR
MedGen C4551981 CLINVAR
NCBI Gene LMAN1 CLINVAR
OMIM 227300 CLINVAR
  601567 CLINVAR