RGD:26888743 Rat Genome Database

Variant: RGD:26888743 - Homo sapiens

RGD ID:

26888743

RS ID:

rs1657673747

ClinVar ID:

CV823018

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

SERPINC1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	173,878,744
GRCh38	1	173,909,606

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
NM_001386305.1:c.1042C>G NM_000488.4:c.1099C>G NP_001373233.1:p.Leu360Val NG_012462.1:g.12773C>G More...	12/06/2019	missense variant	uncertain significance	Antithrombin III deficiency; Reduced antithrombin III activity; Thrombophilia due to antithrombin III deficiency

Disease Annotations Click to see Annotation Detail View

antithrombin III deficiency (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Reduced antithrombin III activity (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	SERPINC1
Accession:	NM_000488
Location:	EXON
Amino Acid Prediction:	L to V (nonsynonymous)
Amino Acid Position:	367

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYSNVIGTVTSGKRKVYLLSLLLIGFWDCVTCHGSPVDICTAKPRDIPMNPMCIYRSPEKKATEDEGSEQKIPEATNRRV WELSKANSRFATTFYQHLADSKNDNDNIFLSPLSISTAFAMTKLGACNDTLQQLMEVFKFDTISEKTSDQIHFFFAKLNC RLYRKANKSSKLVSANRLFGDKSLTFNETYQDISELVYGAKLQPLDFKENAEQSRAAINKWVSNKTEGRITDVIPSEAIN ELTVLVLVNTIYFKGLWKSKFSPENTRKELFYKADGESCSASMMYQEGKFRYRRVAEGTQVLELPFKGDDITMVLILPKP EKSLAKVEKELTPEVLQEWLDELEEMMLVVHMPRFRIEDGFSLKEQVQDMGLVDLFSPEKSKLPGIVAEGRDDLYVSDAF HKAFLEVNEEGSEAAASTAVVIAGRSLNPNRVTFKANRPFLVFIREVPLNTIIFMGRVANPCVK*

Gene Symbol:	SERPINC1
Accession:	NM_001365052
Location:	EXON
Amino Acid Prediction:	L to V (nonsynonymous)
Amino Acid Position:	319

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNPMCIYRSPEKKATEDEGSEQKIPEATNRRVWELSKANSRFATTFYQHLADSKNDNDNIFLSPLSISTAFAMTKLGACN DTLQQLMEVFKFDTISEKTSDQIHFFFAKLNCRLYRKANKSSKLVSANRLFGDKSLTFNETYQDISELVYGAKLQPLDFK ENAEQSRAAINKWVSNKTEGRITDVIPSEAINELTVLVLVNTIYFKGLWKSKFSPENTRKELFYKADGESCSASMMYQEG KFRYRRVAEGTQVLELPFKGDDITMVLILPKPEKSLAKVEKELTPEVLQEWLDELEEMMLVVHMPRFRIEDGFSLKEQVQ DMGLVDLFSPEKSKLPGIVAEGRDDLYVSDAFHKAFLEVNEEGSEAAASTAVVIAGRSLNPNRVTFKANRPFLVFIREVP LNTIIFMGRVANPCVK*

Gene Symbol:	SERPINC1
Accession:	NM_001386305
Location:	EXON
Amino Acid Prediction:	L to V (nonsynonymous)
Amino Acid Position:	348

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYSNVIGTVTSGKRKVYLLSLLLIGFWDCVTCHGSPVDICTAKPRDIPMNPMCIYRSPEKKATEDEGSEQKIPEATNRRV WELSKANSRFATTFYQHLADSKNDNDNIFLSPLSISTAFAMTKLGACNDTLQQLMEVFKFDTISEKTSDQIHFFFAKLNC RLYRKANKSSKLVSANRLFGDKSLTFNETYQDISELVYGAKLQPLDFKENAEQSRAAINKWVSNKTEGRITDVIPSEAIN ELTVLVLVNTIYFKADGESCSASMMYQEGKFRYRRVAEGTQVLELPFKGDDITMVLILPKPEKSLAKVEKELTPEVLQEW LDELEEMMLVVHMPRFRIEDGFSLKEQVQDMGLVDLFSPEKSKLPGIVAEGRDDLYVSDAFHKAFLEVNEEGSEAAASTA VVIAGRSLNPNRVTFKANRPFLVFIREVPLNTIIFMGRVANPCVK*

Gene Symbol:	SERPINC1
Accession:	NM_001386306
Location:	EXON
Amino Acid Prediction:	L to V (nonsynonymous)
Amino Acid Position:	295

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYSNVIGTVTSGKRKVYLLSLLLIGFWDCVTCHGSPVDICTAKPRDIPMNPMCIYRSPEKKATEDEGSEQKIPEATNRRV WELSKANSRFATTFYQHLADSKNDNDNIFLSPLSISTAFAMTKLGACNDTLQQLMEENAEQSRAAINKWVSNKTEGRITD VIPSEAINELTVLVLVNTIYFKGLWKSKFSPENTRKELFYKADGESCSASMMYQEGKFRYRRVAEGTQVLELPFKGDDIT MVLILPKPEKSLAKVEKELTPEVLQEWLDELEEMMLVVHMPRFRIEDGFSLKEQVQDMGLVDLFSPEKSKLPGIVAEGRD DLYVSDAFHKAFLEVNEEGSEAAASTAVVIAGRSLNPNRVTFKANRPFLVFIREVPLNTIIFMGRVANPCVK*

Gene Symbol:	SERPINC1
Accession:	NM_001386304
Location:	EXON
Amino Acid Prediction:	L to V (nonsynonymous)
Amino Acid Position:	360

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYSNVIGTVTSGKRKVYLLSLLLIGFWDCVTCHGSPVDICTAKPRDIPMNPMCIYRSPEKKATEDEGSEQKIPEATNRRV WELSKANSRFATTFYQHLADSKNDNDNIFLSPLSISTAFAMTKLGACNDTLQQLMEVFKFDTISEKTSDQIHFFFAKLNC RLYRKANKSSKLVSANRLFGDKSLTFNETYQDISELVYGAKLQPLDFKENAEQSRAAINKWVSNKTEGRITDVIPSEAIN ELTVLVLGLWKSKFSPENTRKELFYKADGESCSASMMYQEGKFRYRRVAEGTQVLELPFKGDDITMVLILPKPEKSLAKV EKELTPEVLQEWLDELEEMMLVVHMPRFRIEDGFSLKEQVQDMGLVDLFSPEKSKLPGIVAEGRDDLYVSDAFHKAFLEV NEEGSEAAASTAVVIAGRSLNPNRVTFKANRPFLVFIREVPLNTIIFMGRVANPCVK*

Gene Symbol:	SERPINC1
Accession:	NM_001386302
Location:	EXON
Amino Acid Prediction:	L to V (nonsynonymous)
Amino Acid Position:	408

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYSNVIGTVTSGKRKVYLLSLLLIGFWDCVTCHGSPVDICTAKPRDIPMNPMCIYRSPEKKATEDEGSEQKIPEATNRRV WELSKANSRFATTFYQHLADSKNDNDNIFLSPLSISTAFAMTKLGACNDTLQQLMEVFKFDTISEKTSDQIHFFFAKLNC RLYRKANKSSKLVSANRLFGDKSLTFNETYQDISELVYGAKLQPLDFKENAEQSRAAINKWVSNKTEGRITDVIPSEAIN ELTVLVLVNTIYFKVLRMALERPQGLPLALQLTPFFFKWRDRSPERANGLPKATQGLWKSKFSPENTRKELFYKADGESC SASMMYQEGKFRYRRVAEGTQVLELPFKGDDITMVLILPKPEKSLAKVEKELTPEVLQEWLDELEEMMLVVHMPRFRIED GFSLKEQVQDMGLVDLFSPEKSKLPGIVAEGRDDLYVSDAFHKAFLEVNEEGSEAAASTAVVIAGRSLNPNRVTFKANRP FLVFIREVPLNTIIFMGRVANPCVK*

Gene Symbol:	SERPINC1
Accession:	NM_001386303
Location:	EXON
Amino Acid Prediction:	L to V (nonsynonymous)
Amino Acid Position:	394

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYSNVIGTPAFHISLGAAASLRLCTSVLERAAELDSDHARRKVYLLSLLLIGFWDCVTCHGSPVDICTAKPRDIPMNPMC IYRSPEKKATEDEGSEQKIPEATNRRVWELSKANSRFATTFYQHLADSKNDNDNIFLSPLSISTAFAMTKLGACNDTLQQ LMEVFKFDTISEKTSDQIHFFFAKLNCRLYRKANKSSKLVSANRLFGDKSLTFNETYQDISELVYGAKLQPLDFKENAEQ SRAAINKWVSNKTEGRITDVIPSEAINELTVLVLVNTIYFKGLWKSKFSPENTRKELFYKADGESCSASMMYQEGKFRYR RVAEGTQVLELPFKGDDITMVLILPKPEKSLAKVEKELTPEVLQEWLDELEEMMLVVHMPRFRIEDGFSLKEQVQDMGLV DLFSPEKSKLPGIVAEGRDDLYVSDAFHKAFLEVNEEGSEAAASTAVVIAGRSLNPNRVTFKANRPFLVFIREVPLNTII FMGRVANPCVK*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001054938	CLINVAR
dbSNP (RS)	rs1657673747	CLINVAR
MedGen	C0272375	CLINVAR
NCBI Gene	SERPINC1	CLINVAR
OMIM	107300	CLINVAR
	613118	CLINVAR
SNOMED CT	36351005	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:26888743 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:26888743 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar