RGD:126734619 Rat Genome Database

RGD ID:

126734619

RS ID:

rs771465632

ClinVar ID:

CV1000837

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	13	113,770,040
GRCh38	13	113,115,726

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_019616.4:c.431C>T NM_000131.4:c.497C>T LRG_554:g.14936C>T NG_009262.1:g.14936C>T More...	11/01/2020	missense variant	uncertain significance

Disease Annotations Click to see Annotation Detail View

Variant Details

Variant Transcripts

Gene Symbol:	F7
Accession:	NM_019616
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	144

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSQALRLLCLLLGLQGCLAAVFVTQEEAHGVLHRRRRANAFLEELRPGSLERECKEEQCSFEEAREIFKDAERTKLFWI SYSDGDQCASSPCQNGGSCKDQLQSYICFCLPAFEGRNCETHKDDQLICVNENGGCEQYCSDHMGTKRSCRCHEGYSLLA DGVSCTPTVEYPCGKIPILEKRNASKPQGRIVGGKVCPKGECPWQVLLLVNGAQLCGGTLINTIWVVSAAHCFDKIKNWR NLIAVLGEHDLSEHDGDEQSRRVAQVIIPSTYVPGTTNHDIALLRLHQPVVLTDHVVPLCLPERTFSERTLAFVRFSLVS GWGQLLDRGATALELMVLNVPRLMTQDCLQQSRKVGDSPNITEYMFCAGYSDGSKDSCKGDSGGPHATHYRGTWYLTGIV SWGQGCATVGHFGVYTRVSQYIEWLQKLMRSEPRPGVLLRAPFP*

Gene Symbol:	F7
Accession:	XM_011537475
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	133

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGNVNRQGQHCRDFIMVSQALRLLCLLLGLQGCLAADGDQCASSPCQNGGSCKDQLQSYICFCLPAFEGRNCETQESPAS WRRLKREASCWSSGSRMPGDLCSALVPSSPDKDDQLICVNENGGCEQYCSDHMGTKRSCRCHEGYSLLADGVSCTPTVEY PCGKIPILEKRNASKPQGRIVGGKVCPKGECPWQVLLLVNGAQLCGGTLINTIWVVSAAHCFDKIKNWRNLIAVLGEHDL SEHDGDEQSRRVAQVIIPSTYVPGTTNHDIALLRLHQPVVLTDHVVPLCLPERTFSERTLAFVRFSLVSGWGQLLDRGAT ALELMVLNVPRLMTQDCLQQSRKVGDSPNITEYMFCAGYSDGSKDSCKGDSGGPHATHYRGTWYLTGIVSWGQGCATVGH FGVYTRVSQYIEWLQKLMRSEPRPGVLLRAPFP*

Gene Symbol:	F7
Accession:	NM_000131
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	166

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSQALRLLCLLLGLQGCLAAGGVAKASGGETRDMPWKPGPHRVFVTQEEAHGVLHRRRRANAFLEELRPGSLERECKEE QCSFEEAREIFKDAERTKLFWISYSDGDQCASSPCQNGGSCKDQLQSYICFCLPAFEGRNCETHKDDQLICVNENGGCEQ YCSDHMGTKRSCRCHEGYSLLADGVSCTPTVEYPCGKIPILEKRNASKPQGRIVGGKVCPKGECPWQVLLLVNGAQLCGG TLINTIWVVSAAHCFDKIKNWRNLIAVLGEHDLSEHDGDEQSRRVAQVIIPSTYVPGTTNHDIALLRLHQPVVLTDHVVP LCLPERTFSERTLAFVRFSLVSGWGQLLDRGATALELMVLNVPRLMTQDCLQQSRKVGDSPNITEYMFCAGYSDGSKDSC KGDSGGPHATHYRGTWYLTGIVSWGQGCATVGHFGVYTRVSQYIEWLQKLMRSEPRPGVLLRAPFP*

Gene Symbol:	F7
Accession:	NM_001267554
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSQALRLLCLLLGLQGCLAADGDQCASSPCQNGGSCKDQLQSYICFCLPAFEGRNCETHKDDQLICVNENGGCEQYCSD HMGTKRSCRCHEGYSLLADGVSCTPTVEYPCGKIPILEKRNASKPQGRIVGGKVCPKGECPWQVLLLVNGAQLCGGTLIN TIWVVSAAHCFDKIKNWRNLIAVLGEHDLSEHDGDEQSRRVAQVIIPSTYVPGTTNHDIALLRLHQPVVLTDHVVPLCLP ERTFSERTLAFVRFSLVSGWGQLLDRGATALELMVLNVPRLMTQDCLQQSRKVGDSPNITEYMFCAGYSDGSKDSCKGDS GGPHATHYRGTWYLTGIVSWGQGCATVGHFGVYTRVSQYIEWLQKLMRSEPRPGVLLRAPFP*

Gene Symbol:	F7
Accession:	XM_011537476
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	64

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQGPEESPASWRRLKREASCWSSGSRMPGDLCSALVPSSPDKDDQLICVNENGGCEQYCSDHMGTKRSCRCHEGYSLLA DGVSCTPTVEYPCGKIPILEKRNASKPQGRIVGGKVCPKGECPWQVLLLVNGAQLCGGTLINTIWVVSAAHCFDKIKNWR NLIAVLGEHDLSEHDGDEQSRRVAQVIIPSTYVPGTTNHDIALLRLHQPVVLTDHVVPLCLPERTFSERTLAFVRFSLVS GWGQLLDRGATALELMVLNVPRLMTQDCLQQSRKVGDSPNITEYMFCAGYSDGSKDSCKGDSGGPHATHYRGTWYLTGIV SWGQGCATVGHFGVYTRVSQYIEWLQKLMRSEPRPGVLLRAPFP*

Gene Symbol:	F7
Accession:	XM_011537474
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	195

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGNVNRQGQHCRDFIMVSQALRLLCLLLGLQGCLAAVFVTQEEAHGVLHRRRRANAFLEELRPGSLERECKEEQCSFEEA REIFKDAERTKLFWISYSDGDQCASSPCQNGGSCKDQLQSYICFCLPAFEGRNCETQESPASWRRLKREASCWSSGSRMP GDLCSALVPSSPDKDDQLICVNENGGCEQYCSDHMGTKRSCRCHEGYSLLADGVSCTPTVEYPCGKIPILEKRNASKPQG RIVGGKVCPKGECPWQVLLLVNGAQLCGGTLINTIWVVSAAHCFDKIKNWRNLIAVLGEHDLSEHDGDEQSRRVAQVIIP STYVPGTTNHDIALLRLHQPVVLTDHVVPLCLPERTFSERTLAFVRFSLVSGWGQLLDRGATALELMVLNVPRLMTQDCL QQSRKVGDSPNITEYMFCAGYSDGSKDSCKGDSGGPHATHYRGTWYLTGIVSWGQGCATVGHFGVYTRVSQYIEWLQKLM RSEPRPGVLLRAPFP*

Gene Symbol:	F7
Accession:	XM_047430125
Location:	EXON
Amino Acid Prediction:	T to M (nonsynonymous)
Amino Acid Position:	152

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSTGRGSTAEISSWSPRPSGSSAFCLGFRAAWLQEEAHGVLHRRRRANAFLEELRPGSLERECKEEQCSFEEAREIFKDA ERTKLFWISYSDGDQCASSPCQNGGSCKDQLQSYICFCLPAFEGRNCETHKDDQLICVNENGGCEQYCSDHMGTKRSCRC HEGYSLLADGVSCTPTVEYPCGKIPILEKRNASKPQGRIVGGKVCPKGECPWQVLLLVNGAQLCGGTLINTIWVVSAAHC FDKIKNWRNLIAVLGEHDLSEHDGDEQSRRVAQVIIPSTYVPGTTNHDIALLRLHQPVVLTDHVVPLCLPERTFSERTLA FVRFSLVSGWGQLLDRGATALELMVLNVPRLMTQDCLQQSRKVGDSPNITEYMFCAGYSDGSKDSCKGDSGGPHATHYRG TWYLTGIVSWGQGCATVGHFGVYTRVSQYIEWLQKLMRSEPRPGVLLRAPFP*

Variant Samples

Additional Information

External Database Links

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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