RGD:8599977 Rat Genome Database

Variant: RGD:8599977 - Homo sapiens

RGD ID:

8599977

RS ID:

rs121912550

ClinVar ID:

CV29873

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

IMPDH1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	7	128,038,611
GRCh38	7	128,398,557

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	Age of Onset	Prevalence	Trait Synonyms
NG_009194.1:g.16426G>A NC_000007.14:g.128398557C>T NC_000007.13:g.128038611C>T NP_001136047.1:p.Asp201Asn More...	10/01/2023	missense\|missense variant	pathogenic\|likely pathogenic	adolescent\|childhood\|variable	1-5 / 10 000	none provided

Disease Annotations Click to see Annotation Detail View

fundus dystrophy (IAGP)

retinitis pigmentosa 10 (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Retinal dystrophy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	IMPDH1
Accession:	NM_183243
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEGPLTPPPLQGGGAAAVPEPGARQHPGHETAAQRYSARLLQAGYEPESMADYLISGGTGYVPEDGLTAQQLFASADGLT YNDFLILPGFIDFIADEVDLTSALTRKITLKTPLISSPMDTVTEADMAIAMALMGGIGFIHHNCTPEFQANEVRKVKKFE QGFITDPVVLSPSHTVGDVLEAKMRHGFSGIPITETGTMGSKLVGIVTSRDIDFLAEKDHTTLLSEVMTPRIELVVAPAG VTLKEANEILQRSKKGKLPIVNDCDELVAIIARTNLKKNRDYPLASKDSQKQLLCGAAVGTREDDKYRLDLLTQAGVDVI VLDSSQGNSVYQIAMVHYIKQKYPHLQVIGGNVVTAAQAKNLIDAGVDGLRVGMGCGSICITQEVMACGRPQGTAVYKVA EYARRFGVPIIADGGIQTVGHVVKALALGASTVMMGSLLAATTEAPGEYFFSDGVRLKKYRGMGSLDAMEKSSSSQKRYF SEGDKVKIAQGVSGSIQDKGSIQKFVPYLIAGIQHGCQDIGARSLSVLRSMMYSGELKFEKRTMSAQIEGGVHGLHSYEK RLY*

Gene Symbol:	IMPDH1
Accession:	NM_001102605
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	301

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEGPLTPPPLQGGGAAAVPEPGARQHPGHETAAQRYSARLLQAGYEPESCFLLELSSVVLLAGVGVQMDRLRRASMADYL ISGGTGYVPEDGLTAQQLFASADGLTYNDFLILPGFIDFIADEVDLTSALTRKITLKTPLISSPMDTVTEADMAIAMALM GGIGFIHHNCTPEFQANEVRKVKKFEQGFITDPVVLSPSHTVGDVLEAKMRHGFSGIPITETGTMGSKLVGIVTSRDIDF LAEKDHTTLLSEVMTPRIELVVAPAGVTLKEANEILQRSKKGKLPIVNDCDELVAIIARTNLKKNRDYPLASKDSQKQLL CGAAVGTREDDKYRLDLLTQAGVDVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVIGGNVVTAAQAKNLIDAGVDGLRVGM GCGSICITQEVMACGRPQGTAVYKVAEYARRFGVPIIADGGIQTVGHVVKALALGASTVMMGSLLAATTEAPGEYFFSDG VRLKKYRGMGSLDAMEKSSSSQKRYFSEGDKVKIAQGVSGSIQDKGSIQKFVPYLIAGIQHGCQDIGARSLSVLRSMMYS GELKFEKRTMSAQIEGGVHGLHSYEKRLY*

Gene Symbol:	IMPDH1
Accession:	NM_001142576
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	278

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEGPLTPPPLQGGGAAAVPEPGARQHPGHETAAQRYSARLLQAGYEPESPRLDLATHPTTPRSELSSVVLLAGVGVQMDR LRRASDFLILPGFIDFIADEVDLTSALTRKITLKTPLISSPMDTVTEADMAIAMALMGGIGFIHHNCTPEFQANEVRKVK KFEQGFITDPVVLSPSHTVGDVLEAKMRHGFSGIPITETGTMGSKLVGIVTSRDIDFLAEKDHTTLLSEVMTPRIELVVA PAGVTLKEANEILQRSKKGKLPIVNDCDELVAIIARTNLKKNRDYPLASKDSQKQLLCGAAVGTREDDKYRLDLLTQAGV DVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVIGGNVVTAAQAKNLIDAGVDGLRVGMGCGSICITQEVMACGRPQGTAVY KVAEYARRFGVPIIADGGIQTVGHVVKALALGASTVMMGSLLAATTEAPGEYFFSDGVRLKKYRGMGSLDAMEKSSSSQK RYFSEGDKVKIAQGVSGSIQDKGSIQKFVPYLIAGIQHGCQDIGARSLSVLRSMMYSGELKFEKRTMSAQIEGGVHGLHS YEKRLY*

Gene Symbol:	IMPDH1
Accession:	NM_000883
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	311

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEGPLTPPPLQGGGAAAVPEPGARQHPGHETAAQRYSARLLQAGYEPESPRLDLATHPTTPRSELSSVVLLAGVGVQMDR LRRASMADYLISGGTGYVPEDGLTAQQLFASADGLTYNDFLILPGFIDFIADEVDLTSALTRKITLKTPLISSPMDTVTE ADMAIAMALMGGIGFIHHNCTPEFQANEVRKVKKFEQGFITDPVVLSPSHTVGDVLEAKMRHGFSGIPITETGTMGSKLV GIVTSRDIDFLAEKDHTTLLSEVMTPRIELVVAPAGVTLKEANEILQRSKKGKLPIVNDCDELVAIIARTNLKKNRDYPL ASKDSQKQLLCGAAVGTREDDKYRLDLLTQAGVDVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVIGGNVVTAAQAKNLID AGVDGLRVGMGCGSICITQEVMACGRPQGTAVYKVAEYARRFGVPIIADGGIQTVGHVVKALALGASTVMMGSLLAATTE APGEYFFSDGVRLKKYRGMGSLDAMEKSSSSQKRYFSEGDKVKIAQGVSGSIQDKGSIQKFVPYLIAGIQHGCQDIGARS LSVLRSMMYSGELKFEKRTMSAQIEGGVHGLHSYEKRLY*

Gene Symbol:	IMPDH1
Accession:	NM_001142575
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	201

Amino Acid Sequence (Calculated using NCBI transcript definition)
MADYLISGGTGYVPEDGLTAQQLFASADGLTYNDFLILPGFIDFIADEVDLTSALTRKITLKTPLISSPMDTVTEADMAI AMAKFEQGFITDPVVLSPSHTVGDVLEAKMRHGFSGIPITETGTMGSKLVGIVTSRDIDFLAEKDHTTLLSEVMTPRIEL VVAPAGVTLKEANEILQRSKKGKLPIVNDCDELVAIIARTNLKKNRDYPLASKDSQKQLLCGAAVGTREDDKYRLDLLTQ AGVDVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVIGGNVVTAAQAKNLIDAGVDGLRVGMGCGSICITQEVMACGRPQGT AVYKVAEYARRFGVPIIADGGIQTVGHVVKALALGASTVMMGSLLAATTEAPGEYFFSDGVRLKKYRGMGSLDAMEKSSS SQKRYFSEGDKVKIAQGVSGSIQDKGSIQKFVPYLIAGIQHGCQDIGARSLSVLRSMMYSGELKFEKRTMSAQIEGGVHG LHSYEKRLY*

Gene Symbol:	IMPDH1
Accession:	NM_001142574
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	221

Amino Acid Sequence (Calculated using NCBI transcript definition)
MADYLISGGTGYVPEDGLTAQQLFASADGLTYNDFLILPGFIDFIADEVDLTSALTRKITLKTPLISSPMDTVTEADMAI AMALMGGIGFIHHNCTPEFQANEKFEQGFITDPVVLSPSHTVGDVLEAKMRHGFSGIPITETGTMGSKLVGIVTSRDIDF LAEKDHTTLLSEVMTPRIELVVAPAGVTLKEANEILQRSKKGKLPIVNDCDELVAIIARTNLKKNRDYPLASKDSQKQLL CGAAVGTREDDKYRLDLLTQAGVDVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVIGGNVVTAAQAKNLIDAGVDGLRVGM GCGSICITQEVMACGRPQGTAVYKVAEYARRFGVPIIADGGIQTVGHVVKALALGASTVMMGSLLAATTEAPGEYFFSDG VRLKKYRGMGSLDAMEKSSSSQKRYFSEGDKVKIAQGVSGSIQDKGSIQKFVPYLIAGIQHGCQDIGARSLSVLRSMMYS GELKFEKRTMSAQIEGGVHGLHSYEKRLY*

Gene Symbol:	IMPDH1
Accession:	NM_001142573
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	226

Amino Acid Sequence (Calculated using NCBI transcript definition)
MADYLISGGTGYVPEDGLTAQQLFASADGLTYNDFLILPGFIDFIADEVDLTSALTRKITLKTPLISSPMDTVTEADMAI AMALMGGIGFIHHNCTPEFQANEVRKVKKFEQGFITDPVVLSPSHTVGDVLEAKMRHGFSGIPITETGTMGSKLVGIVTS RDIDFLAEKDHTTLLSEVMTPRIELVVAPAGVTLKEANEILQRSKKGKLPIVNDCDELVAIIARTNLKKNRDYPLASKDS QKQLLCGAAVGTREDDKYRLDLLTQAGVDVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVIGGNVVTAAQAKNLIDAGVDG LRVGMGCGSICITQEVMACGRPQGTAVYKVAEYARRFGVPIIADGGIQTVGHVVKALALGASTVMMGSLLAATTEAPGEY FFSDGVRLKKYRGMGSLDAMEKSSSSQKRYFSEGDKVKIAQGVSGSIQDKGSIQKFVPYLIAGIQHGCQDIGARSLSVLR SMMYSGELKFEKRTMSAQIEGGVHGLHSYEKRLY*

Gene Symbol:	IMPDH1
Accession:	NM_001304521
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	242

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEGPLTPPPLQGGGAAAVPEPGARQHPGHETAAQRYSARLLQAGYEPESDFLILPGFIDFIADEVDLTSALTRKITLKTP LISSPMDTVTEADMAIAMALMGGIGFIHHNCTPEFQANEVRKVKKFEQGFITDPVVLSPSHTVGDVLEAKMRHGFSGIPI TETGTMGSKLVGIVTSRDIDFLAEKDHTTLLSEVMTPRIELVVAPAGVTLKEANEILQRSKKGKLPIVNDCDELVAIIAR TNLKKNRDYPLASKDSQKQLLCGAAVGTREDDKYRLDLLTQAGVDVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVIGGNV VTAAQAKNLIDAGVDGLRVGMGCGSICITQEVMACGRPQGTAVYKVAEYARRFGVPIIADGGIQTVGHVVKALALGASTV MMGSLLAATTEAPGEYFFSDGVRLKKYRGMGSLDAMEKSSSSQKRYFSEGDKVKIAQGVSGSIQDKGSIQKFVPYLIAGI QHGCQDIGARSLSVLRSMMYSGELKFEKRTMSAQIEGGVHGLHSYEKRLY*

Gene Symbol:	IMPDH1
Accession:	XM_017012173
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	301

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEGPLTPPPLQGGGAAAVPEPGARQHPGHETAAQRYSARLLQAGYEPESCFLLELSSVVLLAGVGVQMDRLRRASMADYL ISGGTGYVPEDGLTAQQLFASADGLTYNDFLILPGFIDFIADEVDLTSALTRKITLKTPLISSPMDTVTEADMAIAMALM GGIGFIHHNCTPEFQANEVRKVKKFEQGFITDPVVLSPSHTVGDVLEAKMRHGFSGIPITETGTMGSKLVGIVTSRDIDF LAEKDHTTLLSEVMTPRIELVVAPAGVTLKEANEILQRSKKGKLPIVNDCDELVAIIARTNLKKNRDYPLASKDSQKQLL CGAAVGTREDDKYRLDLLTQAGVDVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVIGGNVVTAAQAKNLIDAGVDGLRVGM GCGSICITQEGGCQE*

Gene Symbol:	IMPDH1
Accession:	XM_024446757
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	242

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEGPLTPPPLQGGGAAAVPEPGARQHPGHETAAQRYSARLLQAGYEPESDFLILPGFIDFIADEVDLTSALTRKITLKTP LISSPMDTVTEADMAIAMALMGGIGFIHHNCTPEFQANEVRKVKKFEQGFITDPVVLSPSHTVGDVLEAKMRHGFSGIPI TETGTMGSKLVGIVTSRDIDFLAEKDHTTLLSEVMTPRIELVVAPAGVTLKEANEILQRSKKGKLPIVNDCDELVAIIAR TNLKKNRDYPLASKDSQKQLLCGAAVGTREDDKYRLDLLTQAGVDVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVIGGNV VTAAQAKNLIDAGVDGLRVGMGCGSICITQEVMACGRPQGTAVYKVAEYARRFGVPIIADGGIQTVGHVVKALALGASTV MMGSLLAATTEAPGEYFFSDGVRLKKYRGMGSLDAMEKSSSSQKRYFSEGDKVKIAQGVSGSIQDKGSIQKFVPYLIAGI QHGCQDIGARSLSVLRSMMYSGELKFEKRTMSAQIEGGVHGLHSYTFLPFTKSGCTEDSGGGRGGGGDAPQCPLLGTASL HN*

Gene Symbol:	IMPDH1
Accession:	XM_024446756
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEGPLTPPPLQGGGAAAVPEPGARQHPGHETAAQRYSARLLQAGYEPESMADYLISGGTGYVPEDGLTAQQLFASADGLT YNDFLILPGFIDFIADEVDLTSALTRKITLKTPLISSPMDTVTEADMAIAMALMGGIGFIHHNCTPEFQANEVRKVKKFE QGFITDPVVLSPSHTVGDVLEAKMRHGFSGIPITETGTMGSKLVGIVTSRDIDFLAEKDHTTLLSEVMTPRIELVVAPAG VTLKEANEILQRSKKGKLPIVNDCDELVAIIARTNLKKNRDYPLASKDSQKQLLCGAAVGTREDDKYRLDLLTQAGVDVI VLDSSQGNSVYQIAMVHYIKQKYPHLQVIGGNVVTAAQAKNLIDAGVDGLRVGMGCGSICITQEVMACGRPQGTAVYKVA EYARRFGVPIIADGGIQTVGHVVKALALGASTVMMGSLLAATTEAPGEYFFSDGVRLKKYRGMGSLDAMEKSSSSQKRYF SEGDKVKIAQGVSGSIQDKGSIQKFVPYLIAGIQHGCQDIGARSLSVLRSMMYSGELKFEKRTMSAQIEGGVHGLHSYTF LPFTKSGCTEDSGGGRGGGGDAPQCPLLGTASLHN*

Gene Symbol:	IMPDH1
Accession:	XM_024446755
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	301

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEGPLTPPPLQGGGAAAVPEPGARQHPGHETAAQRYSARLLQAGYEPESCFLLELSSVVLLAGVGVQMDRLRRASMADYL ISGGTGYVPEDGLTAQQLFASADGLTYNDFLILPGFIDFIADEVDLTSALTRKITLKTPLISSPMDTVTEADMAIAMALM GGIGFIHHNCTPEFQANEVRKVKKFEQGFITDPVVLSPSHTVGDVLEAKMRHGFSGIPITETGTMGSKLVGIVTSRDIDF LAEKDHTTLLSEVMTPRIELVVAPAGVTLKEANEILQRSKKGKLPIVNDCDELVAIIARTNLKKNRDYPLASKDSQKQLL CGAAVGTREDDKYRLDLLTQAGVDVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVIGGNVVTAAQAKNLIDAGVDGLRVGM GCGSICITQEVMACGRPQGTAVYKVAEYARRFGVPIIADGGIQTVGHVVKALALGASTVMMGSLLAATTEAPGEYFFSDG VRLKKYRGMGSLDAMEKSSSSQKRYFSEGDKVKIAQGVSGSIQDKGSIQKFVPYLIAGIQHGCQDIGARSLSVLRSMMYS GELKFEKRTMSAQIEGGVHGLHSYTFLPFTKSGCTEDSGGGRGGGGDAPQCPLLGTASLHN*

Gene Symbol:	IMPDH1
Accession:	XM_024446758
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	234

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDRLRRASMADYLISGGTGYVPEDGLTAQQLFASADGLTYNDFLILPGFIDFIADEVDLTSALTRKITLKTPLISSPMDT VTEADMAIAMALMGGIGFIHHNCTPEFQANEVRKVKKFEQGFITDPVVLSPSHTVGDVLEAKMRHGFSGIPITETGTMGS KLVGIVTSRDIDFLAEKDHTTLLSEVMTPRIELVVAPAGVTLKEANEILQRSKKGKLPIVNDCDELVAIIARTNLKKNRD YPLASKDSQKQLLCGAAVGTREDDKYRLDLLTQAGVDVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVIGGNVVTAAQAKN LIDAGVDGLRVGMGCGSICITQEVMACGRPQGTAVYKVAEYARRFGVPIIADGGIQTVGHVVKALALGASTVMMGSLLAA TTEAPGEYFFSDGVRLKKYRGMGSLDAMEKSSSSQKRYFSEGDKVKIAQGVSGSIQDKGSIQKFVPYLIAGIQHGCQDIG ARSLSVLRSMMYSGELKFEKRTMSAQIEGGVHGLHSYTFLPFTKSGCTEDSGGGRGGGGDAPQCPLLGTASLHN*

Gene Symbol:	IMPDH1
Accession:	XM_047420334
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	105

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCWRPRCGMASLASPSLRRAPWAASWWASSPPETSTFLLRRTTPPSSVRQMFLAPQVMTPRIELVVAPAGVTLKEANEIL QRSKKGKLPIVNDCDELVAIIARTNLKKNRDYPLASKDSQKQLLCGAAVGTREDDKYRLDLLTQAGVDVIVLDSSQGNSV YQIAMVHYIKQKYPHLQVIGGNVVTAAQAKNLIDAGVDGLRVGMGCGSICITQEVMACGRPQGTAVYKVAEYARRFGVPI IADGGIQTVGHVVKALALGASTVMMGSLLAATTEAPGEYFFSDGVRLKKYRGMGSLDAMEKSSSSQKRYFSEGDKVKIAQ GVSGSIQDKGSIQKFVPYLIAGIQHGCQDIGARSLSVLRSMMYSGELKFEKRTMSAQIEGGVHGLHSYEKRLY*

Gene Symbol:	IMPDH1
Accession:	XM_047420333
Location:	EXON
Amino Acid Prediction:	D to N (nonsynonymous)
Amino Acid Position:	105

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCWRPRCGMASLASPSLRRAPWAASWWASSPPETSTFLLRRTTPPSSVRQMFLAPQVMTPRIELVVAPAGVTLKEANEIL QRSKKGKLPIVNDCDELVAIIARTNLKKNRDYPLASKDSQKQLLCGAAVGTREDDKYRLDLLTQAGVDVIVLDSSQGNSV YQIAMVHYIKQKYPHLQVIGGNVVTAAQAKNLIDAGVDGLRVGMGCGSICITQEVMACGRPQGTAVYKVAEYARRFGVPI IADGGIQTVGHVVKALALGASTVMMGSLLAATTEAPGEYFFSDGVRLKKYRGMGSLDAMEKSSSSQKRYFSEGDKVKIAQ GVSGSIQDKGSIQKFVPYLIAGIQHGCQDIGARSLSVLRSMMYSGELKFEKRTMSAQIEGGVHGLHSYTFLPFTKSGCTE DSGGGRGGGGDAPQCPLLGTASLHN*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:11875050	PMID:15851576	PMID:15882147	PMID:16671097	PMID:21791244	PMID:25741868	PMID:28492532	PMID:28945494

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000015959	CLINVAR
	RCV000255540	CLINVAR
	RCV003887871	CLINVAR
dbSNP (RS)	rs121912550	CLINVAR
MedGen	C0854723	CLINVAR
	C1867299	CLINVAR
	C3661900	CLINVAR
NCBI Gene	IMPDH1	CLINVAR
OMIM	146690	CLINVAR
	180105	CLINVAR
OMIM Allele	146690.0001	CLINVAR
SNOMED CT	314407005	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:8599977 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:8599977 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar