RGD:127320289 Rat Genome Database

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Variant: RGD:127320289 -  Homo sapiens

RGD ID: 127320289
RS ID: rs4647931
ClinVar ID: CV1154605
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FGFRL1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 1,018,891
GRCh38 4 1,025,103
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001004356.3:c.1271G>T
NM_001004358.1:c.1271G>T
NM_001370296.1:c.1271G>T
NM_021923.3:c.1271G>T
More... 		11/30/2020 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:FGFRL1
Accession:NM_021923
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPSPLLLLLLPPLLLGAFPPAAAARGPPKMADKVVPRQVARLGRTVRLQCPVEGDPPPLTMWTKDGRTIHSGWSRFRVL
PQGLKVKQVEREDAGVYVCKATNGFGSLSVNYTLVVLDDISPGKESLGPDSSSGGQEDPASQQWARPRFTQPSKMRRRVI
ARPVGSSVRLKCVASGHPRPDITWMKDDQALTRPEAAEPRKKKWTLSLKNLRPEDSGKYTCRVSNRAGAINATYKVDVIQ
RTRSKPVLTGTHPVNTTVDFGGTTSFQCKVRSDVKPVIQWLKRVEYGAEGRHNSTIDVGGQKFVVLPTGDVWSRPDGSYL
NKLLITRARQDDAGMYICLGANTMGYSFRSAFLTVLPDPKPPGPPVASSSSATSLPWPVVIGIPAGAVFILGTLLLWLCQ
AQKKPCTPAPAPPLPGHRPPGTALDRSGDKDLPSLAALSAGPGVGLCEEHGSPAAPQHLLGPGPVAGPKLYPKLYTDIHT
HTHTHSHTHSHVEGKVHQHIHYQC*

Gene Symbol:FGFRL1
Accession:XM_024454092
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 447
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLTSITMINVLVIPVTSRSGQAEMTPSPLLLLLLPPLLLGAFPPAAAARGPPKMADKVVPRQVARLGRTVRLQCPVEGDP
PPLTMWTKDGRTIHSGWSRFRVLPQGLKVKQVEREDAGVYVCKATNGFGSLSVNYTLVVLDDISPGKESLGPDSSSGGQE
DPASQQWARPRFTQPSKMRRRVIARPVGSSVRLKCVASGHPRPDITWMKDDQALTRPEAAEPRKKKWTLSLKNLRPEDSG
KYTCRVSNRAGAINATYKVDVIQRTRSKPVLTGTHPVNTTVDFGGTTSFQCKVRSDVKPVIQWLKRVEYGAEGRHNSTID
VGGQKFVVLPTGDVWSRPDGSYLNKLLITRARQDDAGMYICLGANTMGYSFRSAFLTVLPDPKPPGPPVASSSSATSLPW
PVVIGIPAGAVFILGTLLLWLCQAQKKPCTPAPAPPLPGHRPPGTALDRSGDKDLPSLAALSAGPGVGLCEEHGSPAAPQ
HLLGPGPVAGPKLYPKLYTDIHTHTHTHSHTHSHVEGKVHQHIHYQC*

Gene Symbol:FGFRL1
Accession:NM_001004356
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPSPLLLLLLPPLLLGAFPPAAAARGPPKMADKVVPRQVARLGRTVRLQCPVEGDPPPLTMWTKDGRTIHSGWSRFRVL
PQGLKVKQVEREDAGVYVCKATNGFGSLSVNYTLVVLDDISPGKESLGPDSSSGGQEDPASQQWARPRFTQPSKMRRRVI
ARPVGSSVRLKCVASGHPRPDITWMKDDQALTRPEAAEPRKKKWTLSLKNLRPEDSGKYTCRVSNRAGAINATYKVDVIQ
RTRSKPVLTGTHPVNTTVDFGGTTSFQCKVRSDVKPVIQWLKRVEYGAEGRHNSTIDVGGQKFVVLPTGDVWSRPDGSYL
NKLLITRARQDDAGMYICLGANTMGYSFRSAFLTVLPDPKPPGPPVASSSSATSLPWPVVIGIPAGAVFILGTLLLWLCQ
AQKKPCTPAPAPPLPGHRPPGTALDRSGDKDLPSLAALSAGPGVGLCEEHGSPAAPQHLLGPGPVAGPKLYPKLYTDIHT
HTHTHSHTHSHVEGKVHQHIHYQC*

Gene Symbol:FGFRL1
Accession:NM_001370296
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPSPLLLLLLPPLLLGAFPPAAAARGPPKMADKVVPRQVARLGRTVRLQCPVEGDPPPLTMWTKDGRTIHSGWSRFRVL
PQGLKVKQVEREDAGVYVCKATNGFGSLSVNYTLVVLDDISPGKESLGPDSSSGGQEDPASQQWARPRFTQPSKMRRRVI
ARPVGSSVRLKCVASGHPRPDITWMKDDQALTRPEAAEPRKKKWTLSLKNLRPEDSGKYTCRVSNRAGAINATYKVDVIQ
RTRSKPVLTGTHPVNTTVDFGGTTSFQCKVRSDVKPVIQWLKRVEYGAEGRHNSTIDVGGQKFVVLPTGDVWSRPDGSYL
NKLLITRARQDDAGMYICLGANTMGYSFRSAFLTVLPDPKPPGPPVASSSSATSLPWPVVIGIPAGAVFILGTLLLWLCQ
AQKKPCTPAPAPPLPGHRPPGTALDRSGDKDLPSLAALSAGPGVGLCEEHGSPAAPQHLLGPGPVAGPKLYPKLYTDIHT
HTHTHSHTHSHVEGKVHQHIHYQC*

Gene Symbol:FGFRL1
Accession:NM_001004358
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 424
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTPSPLLLLLLPPLLLGAFPPAAAARGPPKMADKVVPRQVARLGRTVRLQCPVEGDPPPLTMWTKDGRTIHSGWSRFRVL
PQGLKVKQVEREDAGVYVCKATNGFGSLSVNYTLVVLDDISPGKESLGPDSSSGGQEDPASQQWARPRFTQPSKMRRRVI
ARPVGSSVRLKCVASGHPRPDITWMKDDQALTRPEAAEPRKKKWTLSLKNLRPEDSGKYTCRVSNRAGAINATYKVDVIQ
RTRSKPVLTGTHPVNTTVDFGGTTSFQCKVRSDVKPVIQWLKRVEYGAEGRHNSTIDVGGQKFVVLPTGDVWSRPDGSYL
NKLLITRARQDDAGMYICLGANTMGYSFRSAFLTVLPDPKPPGPPVASSSSATSLPWPVVIGIPAGAVFILGTLLLWLCQ
AQKKPCTPAPAPPLPGHRPPGTALDRSGDKDLPSLAALSAGPGVGLCEEHGSPAAPQHLLGPGPVAGPKLYPKLYTDIHT
HTHTHSHTHSHVEGKVHQHIHYQC*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001522570 CLINVAR
  RCV003980625 CLINVAR
dbSNP (RS) rs4647931 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FGFRL1 CLINVAR
OMIM 605830 CLINVAR