RGD:126737704 Rat Genome Database

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Variant: RGD:126737704 -  Homo sapiens

RGD ID: 126737704
ClinVar ID: CV1020872
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: F2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 46,760,839
GRCh38 11 46,739,289
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_551:g.25097C>T
NG_008953.1:g.25097C>T
NC_000011.10:g.46739289C>T
NM_000506.3:c.1750C>T
More... 		06/08/2018 nonsense pathogenic Factor II deficiency; HYPOPROTHROMBINEMIA

Variant Details
Variant Transcripts
Gene Symbol:F2
Accession:NM_000506
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 584
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHVRGLQLPGCLALAALCSLVHSQHVFLAPQQARSLLQRVRRANTFLEEVRKGNLERECVEETCSYEEAFEALESSTAT
DVFWAKYTACETARTPRDKLAACLEGNCAEGLGTNYRGHVNITRSGIECQLWRSRYPHKPEINSTTHPGADLQENFCRNP
DSSTTGPWCYTTDPTVRRQECSIPVCGQDQVTVAMTPRSEGSSVNLSPPLEQCVPDRGQQYQGRLAVTTHGLPCLAWASA
QAKALSKHQDFNSAVQLVENFCRNPDGDEEGVWCYVAGKPGDFGYCDLNYCEEAVEEETGDGLDEDSDRAIEGRTATSEY
QTFFNPRTFGSGEADCGLRPLFEKKSLEDKTERELLESYIDGRIVEGSDAEIGMSPWQVMLFRKSPQELLCGASLISDRW
VLTAAHCLLYPPWDKNFTENDLLVRIGKHSRTRYERNIEKISMLEKIYIHPRYNWRENLDRDIALMKLKKPVAFSDYIHP
VCLPDRETAASLLQAGYKGRVTGWGNLKETWTANVGKGQPSVLQVVNLPIVERPVCKDSTRIRITDNMFCAGYKPDEGKR
GDACEGDSGGPFVMKSPFNNRWY*MGIVSWGEGCDRDGKYGFYTHVFRLKKWIQKVIDQFGE*
Variant Samples