RGD:127255223 Rat Genome Database

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Variant: RGD:127255223 -  Homo sapiens

RGD ID: 127255223
RS ID: rs121913086
ClinVar ID: CV1055949
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 90,773,977
GRCh38 10 89,014,220
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001320619.2:c.*101G>A
NM_152872.4:c.*90G>A
NM_152871.4:c.715G>A
NM_000043.6:c.778G>A
More... 		09/29/2020 3 prime utr variant pathogenic|likely pathogenic Autoimmune lymphoproliferative syndrome type 1, autosomal dominant; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FAS
Accession:NM_152872
Location:3UTRS;EXON

Gene Symbol:FAS
Accession:NM_001320619
Location:3UTRS;EXON

Gene Symbol:FAS
Accession:NM_000043
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 260
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGIWTLLPLVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPPGERKARDCTVNGDEP
DCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLT
SNTKCKEEGSRSNLGWLCLLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLSDVDLSKYITTIAGVM
TLSQVKGFVRKNGVNEAKINEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKKANLCTLAEKIQTIILKDITS
DSENSNFRNEIQSLV*

Gene Symbol:FAS
Accession:XM_006717819
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 287
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRVCAQGWHAQGLPHGTNSLLKGGTETSLSTPTRLVVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLH
HDGQFCHKPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNF
FCNSTVCEHCDPCTKCEHGIIKECTLTSNTKCKEEGSRSNLGWLCLLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESP
TLNPETVAINLSDVDLSKYITTIAGVMTLSQVKGFVRKNGVNEAKINEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDT
LIKDLKKANLCTLAEKIQTIILKDITSDSENSNFRNEIQSLV*

Gene Symbol:FAS
Accession:XM_011539765
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 293
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGFPEQRLLLLHVSFPERGINITWELMLRVCAQGWHAQGLPHGTNSLLKGGTETSLSTPTRLVVLTSVARLSSKSVNAQ
VTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRL
CDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLTSNTKCKEEVKRKEVQKTCRKHRKENQ
GSHESPTLNPETVAINLSDVDLSKYITTIAGVMTLSQVKGFVRKNGVNEAKINEIKNDNVQDTAEQKVQLLRNWHQLHGK
KEAYDTLIKDLKKANLCTLAEKIQTIILKDITSDSENSNFRNEIQSLV*

Gene Symbol:FAS
Accession:XM_011539764
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 314
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGFPEQRLLLLHVSFPERGINITWELMLRVCAQGWHAQGLPHGTNSLLKGGTETSLSTPTRLVVLTSVARLSSKSVNAQ
VTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRL
CDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLTSNTKCKEEGSRSNLGWLCLLLLPIPL
IVWVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLSDVDLSKYITTIAGVMTLSQVKGFVRKNGVNEAKINEIKNDN
VQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKKANLCTLAEKIQTIILKDITSDSENSNFRNEIQSLV*

Gene Symbol:FAS
Accession:NM_001410956
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSADPAGQAGQLRRSSETTALHVEVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPP
GERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDP
CTKCEHGIIKECTLTSNTKCKEEGSRSNLGWLCLLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLS
DVDLSKYITTIAGVMTLSQVKGFVRKNGVNEAKINEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKKANLCT
LAEKIQTIILKDITSDSENSNFRNEIQSLV*

Gene Symbol:FAS
Accession:XM_011539766
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 287
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRVCAQGWHAQGLPHGTNSLLKGGTETSLSTPTRLVVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLH
HDGQFCHKPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNF
FCNSTVCEHCDPCTKCEHGIIKECTLTSNTKCKEEGSRSNLGWLCLLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESP
TLNPETVAINLSDVDLSKYITTIAGVMTLSQVKGFVRKNGVNEAKINEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDT
LIKDLKKANLCTLAEKIQTIILKDITSDSENSNFRNEIQSLV*

Gene Symbol:FAS
Accession:NM_152871
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 239
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGIWTLLPLVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPPGERKARDCTVNGDEP
DCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLT
SNTKCKEEVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLSDVDLSKYITTIAGVMTLSQVKGFVRKNGVNEAKINE
IKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKKANLCTLAEKIQTIILKDITSDSENSNFRNEIQSLV*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSADPAGQAGQLRRSSETTALHVEVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPP
GERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDP
CTKCEHGIIKECTLTSNTKCKEEGSRSNLGWLCLLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLS
DVDLSKYITTIAGVMTLSQVKGFVRKNGVNEAKINEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKKANLCT
LAEKIQTIILKDITSDSENSNFRNEIQSLV*

Gene Symbol:FAS
Accession:XM_047425178
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 254
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSADPAGQAGQLRRSSETTALHVEVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPP
GERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDP
CTKCEHGIIKECTLTSNTKCKEEVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLSDVDLSKYITTIAGVMTLSQVK
GFVRKNGVNEAKINEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKKANLCTLAEKIQTIILKDITSDSENSN
FRNEIQSLV*

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

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

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

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

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

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

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

Gene Symbol:FAS
Accession:XM_047425180
Location:INTRON

Gene Symbol:FAS
Accession:XM_047425179
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9821419   PMID:18223337   PMID:20935634   PMID:21490157   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001379330 CLINVAR
  RCV001541758 CLINVAR
dbSNP (RS) rs121913086 CLINVAR
MedGen C1328840 CLINVAR
  C3661900 CLINVAR
NCBI Gene FAS CLINVAR
OMIM 134637 CLINVAR
  601859 CLINVAR