RGD:26923355 Rat Genome Database

Variant: RGD:26923355 - Homo sapiens

RGD ID:

26923355

RS ID:

rs769300513

ClinVar ID:

CV824741

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC105373608 PROC

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	2	128,186,210
GRCh38	2	127,428,634

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
LRG_599t1:c.1074C>A NM_001375608.1:c.1017C>A NM_001375609.1:c.1050C>A NM_001375610.1:c.1068C>A More...	04/29/2019	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:	NM_001375609
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	350

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAAGRRTCSISTTRPYSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTLAFWSKHVD GDQCLVLPLEHPCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKL GDDLLQCHPAVKFPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWV LTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAER ELNQAGQETLVTGWGYHSSREKEAKRNRTLVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVA SFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:	PROC
Accession:	XM_024453002
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	253

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLAGGGAGLGPGWGRGTSTSCPRPPLPAEVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPAVKFPCGR PWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESKKLLVRL GEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLVTGWGYH SSREKEAKRNRTLVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGLVSWGEG CGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:	PROC
Accession:	NM_001375602
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	419

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

Gene Symbol:	PROC
Accession:	NM_001375607
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	420

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

Gene Symbol:	PROC
Accession:	NM_001375605
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	392

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

Gene Symbol:	PROC
Accession:	NM_001375613
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	358

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTL AFWSKHVDGDQCLVLPLEHPCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRC SCAPGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGA VLIHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICL PDSGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTLVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEG DSGGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:	PROC
Accession:	XM_047445117
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	421

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

Gene Symbol:	PROC
Accession:	NM_001375610
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	356

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLTSLLLFVATWGISGTPAPLVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTLAF WSKHVDGDQCLVLPLEHPCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRCSC APGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVL IHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPD SGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTLVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDS GGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:	PROC
Accession:	XM_024453003
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	453

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

Gene Symbol:	PROC
Accession:	NM_001375603
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	413

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

Gene Symbol:	PROC
Accession:	NM_001375604
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	379

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

Gene Symbol:	PROC
Accession:	NM_000312
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	358

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTL AFWSKHVDGDQCLVLPLEHPCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRC SCAPGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGA VLIHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICL PDSGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTLVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEG DSGGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:	PROC
Accession:	NM_001375608
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	339

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTL AFWSKHVDGDQCLVLPLEHPCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQREEVGWRRCSCAPGYKLGDDLLQCHPAV KFPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESK KLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLV TGWGYHSSREKEAKRNRTLVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGL VSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:	PROC
Accession:	NM_001375606
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	414

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

Gene Symbol:	PROC
Accession:	XM_047445118
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	253

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLAGGGAGLGPGWGRGTSTSCPRPPLPAEVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPAVKFPCGR PWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESKKLLVRL GEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLVTGWGYH SSREKEAKRNRTLVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGLVSWGEG CGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:	PROC
Accession:	XM_017004505
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	169

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGAVLIHPSWVLTAAHCMDESKKLLVRLGEYD LRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLVTGWGYHSSRE KEAKRNRTLVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGLVSWGEGCGLL HNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:	PROC
Accession:	NM_001375611
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	358

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECIEEICDFEEAKEIFQNVDDTL AFWSKHVDGDQCLVLPLEHPCASLCCGHGTCIDGIGSFSCDCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRC SCAPGYKLGDDLLQCHPAVKFPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGA VLIHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDIALLHLAQPATLSQTIVPICL PDSGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTLVLNFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEG DSGGPMVASFHGTWFLVGLVSWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP*

Gene Symbol:	LOC105373608
Accession:	XR_007087228
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001063824	CLINVAR
dbSNP (RS)	rs769300513	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:26923355 - Homo sapiens

Imported Disease Annotations - ClinVar