RGD:13821719 Rat Genome Database

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Variant: RGD:13821719 -  Homo sapiens

RGD ID: 13821719
RS ID: rs1569152303
ClinVar ID: CV571182
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: POFUT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 30,803,114
GRCh38 20 32,215,311
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_015352.2:c.289C>T
NM_172236.2:c.289C>T
NM_015352.1:c.289C>T
NP_758436.1:p.Gln97Ter
More... 		06/09/2018 nonsense pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:POFUT1
Accession:XM_047440079
Location:5UTRS;EXON

Gene Symbol:POFUT1
Accession:NM_015352
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAAAWARPLSVSFLLLLLPLPGMPAGSWDPAGYLLYCPCMGRFGNQADHFLGSLAFAKLLNRTLAVPPWIEYQHHKPPF
TNLHVSYQKYFKLEPL*AYHRVISLEDFMEKLAPTHWPPEKRVAYCFEVAAQRSPDKKTCPMKEGNPFGPFWDQFHVSFN
KSELFTGISFSASYREQWSQRFSPKEHPVLALPGAPAQFPVLEEHRPLQKYMVWSDEMVKTGEAQIHAHLVRPYVGIHLR
IGSDWKNACAMLKDGTAGSHFMASPQCVGYSRSTAAPLTMTMCLPDLKEIQRAVKLWVRSLDAQSVYVATDSESYVPELQ
QLFKGKVKVVSLKPEVAQVDLYILGQADHFIGNCVSSFTAFVKRERDLQGRPSSFFGMDRPPKLRDEF*

Gene Symbol:POFUT1
Accession:NM_172236
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAAAWARPLSVSFLLLLLPLPGMPAGSWDPAGYLLYCPCMGRFGNQADHFLGSLAFAKLLNRTLAVPPWIEYQHHKPPF
TNLHVSYQKYFKLEPL*AYHRVISLEDFMEKLAPTHWPPEKRVAYCFEVAAQRSPDKKTCPMKEGNPFGPFWDQFHVSFN
KSELFTGISFSASYREQWSQRRENHSCVTLLFPR*

Gene Symbol:POFUT1
Accession:XR_007067447
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25229252   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000696298 CLINVAR
dbSNP (RS) rs1569152303 CLINVAR
MedGen C3809147 CLINVAR
NCBI Gene POFUT1 CLINVAR
OMIM 607491 CLINVAR
  615327 CLINVAR