rs1263821261 Rat Genome Database

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Variant: rs1263821261 -  Homo sapiens

RGD ID: 28905754
RS ID: rs1263821261
ClinVar ID: CV879556
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LMAN1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 18 56,995,655
GRCh38 18 59,328,423
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005570.4:c.*2670G>C
NG_012097.1:g.35854G>C
NC_000018.10:g.59328423C>G
NC_000018.9:g.56995655C>G
More... 		01/13/2018 3 prime utr variant uncertain significance 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 RCV001126690 CLINVAR
dbSNP (RS) rs1263821261 CLINVAR
MedGen C4551981 CLINVAR
NCBI Gene LMAN1 CLINVAR
OMIM 227300 CLINVAR
  601567 CLINVAR