RGD:11639467 Rat Genome Database

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Variant: RGD:11639467 -  Homo sapiens

RGD ID: 11639467
RS ID: rs886043715
ClinVar ID: CV271985
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLVCR1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 213,032,295
GRCh38 1 212,858,953
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_028131.1:g.5699G>A
NC_000001.11:g.212858953G>A
NC_000001.10:g.213032295G>A
NP_054772.1:p.Leu167=
More... 		05/19/2021 synonymous variant conflicting interpretations of pathogenicity|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:FLVCR1
Accession:XM_011509447
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARPDDEEGAAVAPGHPLAKGYLPLPRGAPVGKESVELQNGPKAGTFPVNGAPRDSLAAASGVLGGPQTPLAPEEETQAR
LLPAGAGAETPGAESSPLPLTALSPRRFVVLLIFSLYSLVNAFQWIQYSIISNVFEGFYGVTLLHIDWLSMVYMLAYVPL
IFPATWLLDTRGLRLTALLGSGLNCLGAWIKCGSVQQHLFWVTMLGQCLCSVAQVFILGLPSRIASVWFGPKEVSTACAT
AVLGNQLGTAVGFLLPPVLVPNTQNDTNLLACNISTMFYGTSAVATLLFILTAIGHSSKARLPPLVTESSRLSLSLEAVS
QNQLQAAIISLEEALGRIQRDSGKDNRHPNSTRSDRMKGRGGFAT*

Gene Symbol:FLVCR1
Accession:XM_011509448
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARPDDEEGAAVAPGHPLAKGYLPLPRGAPVGKESVELQNGPKAGTFPVNGAPRDSLAAASGVLGGPQTPLAPEEETQAR
LLPAGAGAETPGAESSPLPLTALSPRRFVVLLIFSLYSLVNAFQWIQYSIISNVFEGFYGVTLLHIDWLSMVYMLAYVPL
IFPATWLLDTRGLRLTALLGSGLNCLGAWIKCGSVQQHLFWVTMLGQCLCSVAQVFILGLPSRIASVWFGPKEVSTACAT
AVLGNQLGTAVGFLLPPVLVPNTQNDTNLLACNISTMFYGTSAVATLLFILTAIGHSSKARLPPLVTESSRLSLSLEAVS
QNQLQAAIISLEEALGRIQRDSGKDNRHPNSTRSDRMKGRGGFAT*

Gene Symbol:FLVCR1
Accession:NM_014053
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARPDDEEGAAVAPGHPLAKGYLPLPRGAPVGKESVELQNGPKAGTFPVNGAPRDSLAAASGVLGGPQTPLAPEEETQAR
LLPAGAGAETPGAESSPLPLTALSPRRFVVLLIFSLYSLVNAFQWIQYSIISNVFEGFYGVTLLHIDWLSMVYMLAYVPL
IFPATWLLDTRGLRLTALLGSGLNCLGAWIKCGSVQQHLFWVTMLGQCLCSVAQVFILGLPSRIASVWFGPKEVSTACAT
AVLGNQLGTAVGFLLPPVLVPNTQNDTNLLACNISTMFYGTSAVATLLFILTAIAFKEKPRYPPSQAQAALQDSPPEEYS
YKKSIRNLFKNIPFVLLLITYGIMTGAFYSVSTLLNQMILTYYEGEEVNAGRIGLTLVVAGMVGSILCGLWLDYTKTYKQ
TTLIVYILSFIGMVIFTFTLDLRYIIIVFVTGGVLGFFMTGYLPLGFEFAVEITYPESEGTSSGLLNASAQIFGILFTLA
QGKLTSDYGPKAGNIFLCVWMFIGIILTALIKSDLRRHNINIGITNVDVKAIPADSPTDQEPKTVMLSKQSESAI*

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000320256 CLINVAR
dbSNP (RS) rs886043715 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FLVCR1 CLINVAR
OMIM 609144 CLINVAR