RGD:38479784 Rat Genome Database

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Variant: RGD:38479784 -  Homo sapiens

RGD ID: 38479784
RS ID: rs1039497994
ClinVar ID: CV941690
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLVCR1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 213,031,963
GRCh38 1 212,858,621
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014053.4:c.169C>G
NG_028131.1:g.5367C>G
NC_000001.11:g.212858621C>G
NC_000001.10:g.213031963C>G
More... 		09/02/2020 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FLVCR1
Accession:NM_014053
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARPDDEEGAAVAPGHPLAKGYLPLPRGAPVGKESVELQNGPKAGTFPVNGAPRDSVAAASGVLGGPQTPLAPEEETQAR
LLPAGAGAETPGAESSPLPLTALSPRRFVVLLIFSLYSLVNAFQWIQYSIISNVFEGFYGVTLLHIDWLSMVYMLAYVPL
IFPATWLLDTRGLRLTALLGSGLNCLGAWIKCGSVQQHLFWVTMLGQCLCSVAQVFILGLPSRIASVWFGPKEVSTACAT
AVLGNQLGTAVGFLLPPVLVPNTQNDTNLLACNISTMFYGTSAVATLLFILTAIAFKEKPRYPPSQAQAALQDSPPEEYS
YKKSIRNLFKNIPFVLLLITYGIMTGAFYSVSTLLNQMILTYYEGEEVNAGRIGLTLVVAGMVGSILCGLWLDYTKTYKQ
TTLIVYILSFIGMVIFTFTLDLRYIIIVFVTGGVLGFFMTGYLPLGFEFAVEITYPESEGTSSGLLNASAQIFGILFTLA
QGKLTSDYGPKAGNIFLCVWMFIGIILTALIKSDLRRHNINIGITNVDVKAIPADSPTDQEPKTVMLSKQSESAI*

Gene Symbol:FLVCR1
Accession:XM_011509447
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARPDDEEGAAVAPGHPLAKGYLPLPRGAPVGKESVELQNGPKAGTFPVNGAPRDSVAAASGVLGGPQTPLAPEEETQAR
LLPAGAGAETPGAESSPLPLTALSPRRFVVLLIFSLYSLVNAFQWIQYSIISNVFEGFYGVTLLHIDWLSMVYMLAYVPL
IFPATWLLDTRGLRLTALLGSGLNCLGAWIKCGSVQQHLFWVTMLGQCLCSVAQVFILGLPSRIASVWFGPKEVSTACAT
AVLGNQLGTAVGFLLPPVLVPNTQNDTNLLACNISTMFYGTSAVATLLFILTAIGHSSKARLPPLVTESSRLSLSLEAVS
QNQLQAAIISLEEALGRIQRDSGKDNRHPNSTRSDRMKGRGGFAT*

Gene Symbol:FLVCR1
Accession:XM_011509448
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 57
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARPDDEEGAAVAPGHPLAKGYLPLPRGAPVGKESVELQNGPKAGTFPVNGAPRDSVAAASGVLGGPQTPLAPEEETQAR
LLPAGAGAETPGAESSPLPLTALSPRRFVVLLIFSLYSLVNAFQWIQYSIISNVFEGFYGVTLLHIDWLSMVYMLAYVPL
IFPATWLLDTRGLRLTALLGSGLNCLGAWIKCGSVQQHLFWVTMLGQCLCSVAQVFILGLPSRIASVWFGPKEVSTACAT
AVLGNQLGTAVGFLLPPVLVPNTQNDTNLLACNISTMFYGTSAVATLLFILTAIGHSSKARLPPLVTESSRLSLSLEAVS
QNQLQAAIISLEEALGRIQRDSGKDNRHPNSTRSDRMKGRGGFAT*

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

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

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

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

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

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001234443 CLINVAR
  RCV003284093 CLINVAR
dbSNP (RS) rs1039497994 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene FLVCR1 CLINVAR
  LOC129932486 CLINVAR
OMIM 609144 CLINVAR