RGD:13611911 Rat Genome Database

Variant: RGD:13611911 - Homo sapiens

RGD ID:

13611911

RS ID:

rs1554851718

ClinVar ID:

CV514003

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

FAS

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	10	90,770,540
GRCh38	10	89,010,783

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NR_028036.4:n.506T>G LRG_134t1:c.536T>G NG_009089.2:g.25253T>G NM_000043.4:c.536T>G More...	11/19/2019	intron variant	likely pathogenic\|uncertain significance	Autoimmune lymphoproliferative syndrome type 1, autosomal dominant; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT; Enlarged Spleen; none provided

Disease Annotations Click to see Annotation Detail View

autoimmune lymphoproliferative syndrome (IAGP)

Splenomegaly (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Splenomegaly (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	FAS
Accession:	NM_152872
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	179

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLGIWTLLPLVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPPGERKARDCTVNGDEP DCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLT SNTKCKEEGSRSNLGWLCRLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESPTLNPMLT*

Gene Symbol:	FAS
Accession:	XM_011539766
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRVCAQGWHAQGLPHGTNSLLKGGTETSLSTPTRLVVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLH HDGQFCHKPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNF FCNSTVCEHCDPCTKCEHGIIKECTLTSNTKCKEEGSRSNLGWLCRLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESP TLNPETVAINLSDVDLSKYITTIAGVMTLSQVKGFVRKNGVNEAKIDEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDT LIKDLKKANLCTLAEKIQTIILKDITSDSENSNFRNEIQSLV*

Gene Symbol:	FAS
Accession:	XM_006717819
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRVCAQGWHAQGLPHGTNSLLKGGTETSLSTPTRLVVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLH HDGQFCHKPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNF FCNSTVCEHCDPCTKCEHGIIKECTLTSNTKCKEEGSRSNLGWLCRLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESP TLNPETVAINLSDVDLSKYITTIAGVMTLSQVKGFVRKNGVNEAKIDEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDT LIKDLKKANLCTLAEKIQTIILKDITSDSENSNFRNEIQSLV*

Gene Symbol:	FAS
Accession:	NM_001320619
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	179

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLGIWTLLPLVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPPGERKARDCTVNGDEP DCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLT SNTKCKEEGSRSNLGWLCRLLLPIPLIVWGNSGNKFI*

Gene Symbol:	FAS
Accession:	XM_011539764
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	233

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSGFPEQRLLLLHVSFPERGINITWELMLRVCAQGWHAQGLPHGTNSLLKGGTETSLSTPTRLVVLTSVARLSSKSVNAQ VTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRL CDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLTSNTKCKEEGSRSNLGWLCRLLLPIPL IVWVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLSDVDLSKYITTIAGVMTLSQVKGFVRKNGVNEAKIDEIKNDN VQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKKANLCTLAEKIQTIILKDITSDSENSNFRNEIQSLV*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	194

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRSADPAGQAGQLRRSSETTALHVEVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPP GERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDP CTKCEHGIIKECTLTSNTKCKEEGSRSNLGWLCRLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLS DVDLSKYITTIAGVMTLSQVKGFVRKNGVNEAKIDEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKKANLCT LAEKIQTIILKDITSDSENSNFRNEIQSLV*

Gene Symbol:	FAS
Accession:	NM_001410956
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	194

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRSADPAGQAGQLRRSSETTALHVEVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPP GERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDP CTKCEHGIIKECTLTSNTKCKEEGSRSNLGWLCRLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLS DVDLSKYITTIAGVMTLSQVKGFVRKNGVNEAKIDEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKKANLCT LAEKIQTIILKDITSDSENSNFRNEIQSLV*

Gene Symbol:	FAS
Accession:	NM_000043
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	179

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLGIWTLLPLVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPPGERKARDCTVNGDEP DCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLT SNTKCKEEGSRSNLGWLCRLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLSDVDLSKYITTIAGVM TLSQVKGFVRKNGVNEAKIDEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKKANLCTLAEKIQTIILKDITS DSENSNFRNEIQSLV*

Gene Symbol:	FAS
Accession:	XM_047425179
Location:	EXON
Amino Acid Prediction:	F to V (nonsynonymous)
Amino Acid Position:	197

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSGFPEQRLLLLHVSFPERGINITWELMLRVCAQGWHAQGLPHGTNSLLKGGTETSLSTPTRLVVLTSVARLSSKSVNAQ VTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRL CDEGHDVNMESSRNAHSPATPSAKRKDPDLTWGGFVVFFCQFH*

Gene Symbol:	FAS
Accession:	NR_135314
Location:	EXON;NON-CODING

Gene Symbol:	FAS
Accession:	NR_135315
Location:	EXON;NON-CODING

Gene Symbol:	FAS
Accession:	NR_028035
Location:	EXON;NON-CODING

Gene Symbol:	FAS
Accession:	NR_028036
Location:	EXON;NON-CODING

Gene Symbol:	FAS
Accession:	NR_135313
Location:	EXON;NON-CODING

Gene Symbol:	FAS
Accession:	XM_047425178
Location:	INTRON

Gene Symbol:	FAS
Accession:	XM_047425180
Location:	INTRON

Gene Symbol:	FAS
Accession:	NM_152871
Location:	INTRON

Gene Symbol:	FAS
Accession:	XM_011539765
Location:	INTRON

Gene Symbol:	FAS
Accession:	NR_028033
Location:	INTRON;NON-CODING

Gene Symbol:	FAS
Accession:	NR_028034
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000626571	CLINVAR
	RCV001051234	CLINVAR
	RCV001815421	CLINVAR
dbSNP (RS)	rs1554851718	CLINVAR
MedGen	C0038002	CLINVAR
	C1328840	CLINVAR
	C3661900	CLINVAR
NCBI Gene	FAS	CLINVAR
OMIM	134637	CLINVAR
	601859	CLINVAR

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)

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

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

Variant: RGD:13611911 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:13611911 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar