rs34753206 Rat Genome Database

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Variant: rs34753206 -  Homo sapiens

RGD ID: 11630135
RS ID: rs34753206
ClinVar ID: CV347576
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMAN1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 56,995,920
GRCh38 18 59,328,688
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.35589C>A
NC_000018.10:g.59328688G>T
NC_000018.9:g.56995920G>T
NM_005570.4:c.*2405C>A
More... 		01/12/2018 3 prime utr variant benign|likely benign 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; none provided
Disease Annotations     Click to see Annotation Detail View


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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000342158 CLINVAR
  RCV004717154 CLINVAR
dbSNP (RS) rs34753206 CLINVAR
MedGen C3661900 CLINVAR
  C4551981 CLINVAR
NCBI Gene LMAN1 CLINVAR
OMIM 227300 CLINVAR
  601567 CLINVAR