RGD:8659607 Rat Genome Database

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Variant: RGD:8659607 -  Homo sapiens

RGD ID: 8659607
RS ID: rs3207090
ClinVar ID: CV134549
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLVCR1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 213,068,595
GRCh38 1 212,895,253
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_028131.1:g.41999C>T
NC_000001.11:g.212895253C>T
NC_000001.10:g.213068595C>T
NM_014053.2:c.1631C>T
More... 		07/15/2019 missense|missense variant benign|likely benign childhood <1 / 1 000 000 AllHighlyPenetrant; none provided; Posterior column ataxia with retinitis pigmentosa
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FLVCR1
Accession:NM_014053
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 544
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARPDDEEGAAVAPGHPLAKGYLPLPRGAPVGKESVELQNGPKAGTFPVNGAPRDSLAAASGVLGGPQTPLAPEEETQAR
LLPAGAGAETPGAESSPLPLTALSPRRFVVLLIFSLYSLVNAFQWIQYSIISNVFEGFYGVTLLHIDWLSMVYMLAYVPL
IFPATWLLDTRGLRLTALLGSGLNCLGAWIKCGSVQQHLFWVTMLGQCLCSVAQVFILGLPSRIASVWFGPKEVSTACAT
AVLGNQLGTAVGFLLPPVLVPNTQNDTNLLACNISTMFYGTSAVATLLFILTAIAFKEKPRYPPSQAQAALQDSPPEEYS
YKKSIRNLFKNIPFVLLLITYGIMTGAFYSVSTLLNQMILTYYEGEEVNAGRIGLTLVVAGMVGSILCGLWLDYTKTYKQ
TTLIVYILSFIGMVIFTFTLDLRYIIIVFVTGGVLGFFMTGYLPLGFEFAVEITYPESEGTSSGLLNASAQIFGILFTLA
QGKLTSDYGPKAGNIFLCVWMFIGIILTALIKSDLRRHNINIGITNVDVKAIPADSPTDQEPKMVMLSKQSESAI*

Gene Symbol:FLVCR1
Accession:XR_247024
Location:EXON;NON-CODING

Gene Symbol:FLVCR1
Accession:XR_007059232
Location:EXON;NON-CODING

Gene Symbol:FLVCR1
Accession:XM_011509447
Location:INTRON

Gene Symbol:FLVCR1
Accession:XM_011509448
Location:INTRON

Gene Symbol:FLVCR1
Accession:XR_921769
Location:INTRON;NON-CODING

Gene Symbol:FLVCR1
Accession:XR_426772
Location:INTRON;NON-CODING

Gene Symbol:FLVCR1
Accession:XR_426771
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000117088 CLINVAR
  RCV000330210 CLINVAR
  RCV000992006 CLINVAR
dbSNP (RS) rs3207090 CLINVAR
MedGen C1836916 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene FLVCR1 CLINVAR
OMIM 609033 CLINVAR
  609144 CLINVAR