RGD:14975801 Rat Genome Database

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Variant: RGD:14975801 -  Homo sapiens

RGD ID: 14975801
RS ID: rs200605188
ClinVar ID: CV615653
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PI4KA  SERPIND1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 21,141,263
GRCh38 22 20,786,975
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_058004.4:c.2328+6218G>A
NM_001362863.2:c.2262+6218G>A
NC_000022.10:g.21141263C>T
NM_001362862.2:c.2328+6218G>A
More... 		02/01/2019 intron variant uncertain significance Deep vein thrombosis
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SERPIND1
Accession:NM_000185
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 470
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKHSLNALLIFLIITSAWGGSKGPLDQLEKGGETAQSADPQWEQLNNKNLSMPLLPADFHKENTVTNDWIPEGEEDDDYL
DLEKIFSEDDDYIDIVDSLSVSPTDSDVSAGNILQLFHGKSRIQRLNILNAKFAFNLYRVLKDQVNTFDNIFIAPVGIST
AMGMISLGLKGETHEQVHSILHFKDFVNASSKYEITTIHNLFRKLTHRLFRRNFGYTLRSVNDLYIQKQFPILLDFKTKV
REYYFAEAQIADFSDPAFISKTNNHIMKLTKGLIKDALENIDPATQMMILNCIYFKGSWVNKFPVEMTHNHNFRLNEREV
VKVSMMQTKGNFLAANDQELDCDILQLEYVGGISMLIVVPHKMSGMKTLEAQLTPRVVERWQKSMTNRTREVLLPKFKLE
KNYNLVESLKLMGIRMLFDKNGNMAGISDQRIAIDLFKHQGTITVNEEGTQATTVTTVGFMPLSTQVRFIVDRPFLFLIY
EHRTSCLLFMGRVANPSRS*

Gene Symbol:PI4KA
Accession:XM_047441409
Location:INTRON

Gene Symbol:PI4KA
Accession:NM_001362863
Location:INTRON

Gene Symbol:PI4KA
Accession:XM_047441408
Location:INTRON

Gene Symbol:PI4KA
Accession:XM_011530226
Location:INTRON

Gene Symbol:PI4KA
Accession:XM_047441410
Location:INTRON

Gene Symbol:PI4KA
Accession:NM_058004
Location:INTRON

Gene Symbol:PI4KA
Accession:XM_005261635
Location:INTRON

Gene Symbol:PI4KA
Accession:NM_001362862
Location:INTRON

Gene Symbol:PI4KA
Accession:XM_011530228
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:31064749  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000852022 CLINVAR
dbSNP (RS) rs200605188 CLINVAR
MedGen C0149871 CLINVAR
NCBI Gene PI4KA CLINVAR
  SERPIND1 CLINVAR
OMIM 142360 CLINVAR
  600286 CLINVAR