RGD:14744648 Rat Genome Database

Variant: RGD:14744648 - Homo sapiens

RGD ID:

14744648

RS ID:

rs1156578125

ClinVar ID:

CV628433

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PROC

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	2	128,180,672
GRCh38	2	127,423,096

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_001375609.1:c.301G>T NM_001375603.1:c.388G>T NM_001375606.1:c.480G>T NM_001375602.1:c.508G>T More...	07/06/2018	missense variant	uncertain significance	PROC DEFICIENCY, AUTOSOMAL DOMINANT; Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant

Disease Annotations Click to see Annotation Detail View

autosomal dominant thrombophilia due to protein C deficiency (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	PROC
Accession:	XM_047445118
Location:	5UTRS;EXON

Gene Symbol:	PROC
Accession:	XM_017004505
Location:	5UTRS;EXON

Gene Symbol:	PROC
Accession:	XM_024453002
Location:	5UTRS;EXON

Gene Symbol:	PROC
Accession:	NM_001375606
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	160

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGRRTCSISTTRPCASASRMWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLEREC IEEICDFEEAKEIFQNVDDTLAFWSKHVGECVLDPRLDYRRPRPSGSLAADPLPRLVSQTVTSAWSCPWSTRAPACAAGT ARASTASAASAATAAAAGRAASASAVRGREVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPAVKFPCG RPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESKKLLVR LGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLVTGWGY HSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGLVSWGE GCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:	PROC
Accession:	NM_001375603
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	130

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGRRTCSISTTRPCASASRMWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLEREC IEEICDFEEAKEIFQNVDDTLAFWSKHVDGDQCLVLPLEHPCASLCCGHCTCIDGIGSFSCDCRSGWEGRFCQRGEGERW MLAGGGAGLGPGWGRGTSTSCPRPPLPAEVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPAVKFPCGR PWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESKKLLVRL GEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLVTGWGYH SSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGLVSWGEG CGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:	PROC
Accession:	NM_001375609
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	101

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGRRTCSISTTRPYSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTLAFWSKHVD GDQCLVLPLEHPCASLCCGHCTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKL GDDLLQCHPAVKFPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWV LTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAER ELNQAGQETLVTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVA SFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:	PROC
Accession:	XM_024453003
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	170

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGRRTCSISTTRPSSALTASTQGQPFHSASTWGCRQSSSGGRHCPELRSPPQTGASASRMWQLTSLLLFVATWGISGT PAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTLAFWSKHVDGDQCLVLPLEH PCASLCCGHCTCIDGIGSFSCDCRSGWEGRFCQRGEGERWMLAGGGAGLGPGWGRGTSTSCPRPPLPAEVSFLNCSLDNG GCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPW QVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHL AQPATLSQTIVPICLPDSGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENM LCAGILGDRQDACEGDSGGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:	PROC
Accession:	NM_001375607
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	137

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGRRTCSISTTRPCRAAAGVGTARSSEVLLRQVPVPPECGSSQASCCSWPPGEFPAHQLLLVLRIRKRANSFLEELRH SSLERECIEEICDFEEAKEIFQNVDDTLAFWSKHVDGDQCLVLPLEHPCASLCCGHCTCIDGIGSFSCDCRSGWEGRFCQ RGEGERWMLAGGGAGLGPGWGRGTSTSCPRPPLPAEVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPA VKFPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDES KKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETL VTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVG LVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:	PROC
Accession:	NM_001375605
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTL AFWSKHVDGDQCLVLPLEHPCASLCCGHCTCIDGIGSFSCDCRSGWEGRFCQRGEGERWMLAGGGAGLGPGWGRGTSTSC PRPPLPAEVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLKRDTEDQED QVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVF VHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTFVLNFIKIP VVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIH GHIRDKEAPQKSWAP*

Gene Symbol:	PROC
Accession:	NM_001375608
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTL AFWSKHVDGDQCLVLPLEHPCASLCCGHCTCIDGIGSFSCDCRSGWEGRFCQREEVGWRRCSCAPGYKLGDDLLQCHPAV KFPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESK KLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLV TGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGL VSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:	PROC
Accession:	NM_001375610
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	107

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLTSLLLFVATWGISGTPAPLVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTLAF WSKHVDGDQCLVLPLEHPCASLCCGHCTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRCSC APGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVL IHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPD SGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDS GGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:	PROC
Accession:	XM_047445117
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	138

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGRRTCSISTTRPCESPSRQTGASASRMWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELR HSSLERECIEEICDFEEAKEIFQNVDDTLAFWSKHVDGDQCLVLPLEHPCASLCCGHCTCIDGIGSFSCDCRSGWEGRFC QRGEGERWMLAGGGAGLGPGWGRGTSTSCPRPPLPAEVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHP AVKFPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDE SKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQET LVTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLV GLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:	PROC
Accession:	NM_000312
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTL AFWSKHVDGDQCLVLPLEHPCASLCCGHCTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRC SCAPGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGA VLIHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICL PDSGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEG DSGGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:	PROC
Accession:	NM_001375604
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	130

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGRRTCSISTTRPCASASRMWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLEREC IEEICDFEEAKEIFQNVDDTLAFWSKHVDGDQCLVLPLEHPCASLCCGHCTCIDGIGSFSCDCRSGWEGRFCQREVSFLN CSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTR RGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDND IALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSN MVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSW AP*

Gene Symbol:	PROC
Accession:	NM_001375611
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTL AFWSKHVDGDQCLVLPLEHPCASLCCGHCTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRC SCAPGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGA VLIHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICL PDSGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEG DSGGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:	PROC
Accession:	NM_001375602
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	170

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGRRTCSISTTRPSSALTASTQGQPFHSASTWGCRQSSSGGRHCPELRSPPQTGASASRMWQLTSLLLFVATWGISGT PAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTLAFWSKHVDGDQCLVLPLEH PCASLCCGHCTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPAV KFPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESK KLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLV TGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGL VSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:	PROC
Accession:	NM_001375613
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTL AFWSKHVDGDQCLVLPLEHPCASLCCGHCTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRC SCAPGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGA VLIHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICL PDSGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTFVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEG DSGGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000824240	CLINVAR
dbSNP (RS)	rs1156578125	CLINVAR
MedGen	C2674321	CLINVAR
NCBI Gene	PROC	CLINVAR
OMIM	176860	CLINVAR
	612283	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)

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Variant: RGD:14744648 - Homo sapiens

Imported Disease Annotations - ClinVar