Hccs Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for All species
(View Results for all Objects and Ontologies)

77 records found for search term Hccs

Refine Term:

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150336295	CV1173536	single nucleotide variant	NM_005333.5(HCCS):c.*287G>A	not provided [RCV001540928]	likely benign	X	11122097	11122097	Human		name
150429090	CV1189039	single nucleotide variant	NM_005333.5(HCCS):c.*265T>C	not provided [RCV001563140]	likely benign	X	11122075	11122075	Human		name
151356413	CV1329177	single nucleotide variant	NM_005333.5(HCCS):c.252+5T>G	not specified [RCV001822766]	uncertain significance	X	11114991	11114991	Human		name
8659707	CV134662	single nucleotide variant	NM_005333.5(HCCS):c.521+7A>G	HCCS-related disorder [RCV003905115]\|not provided [RCV000901972]\|not specified [RCV000117211]	benign\|likely benign	X	11118627	11118627	Human	1	name , trait , alternate_id
155644392	CV1708669	single nucleotide variant	NM_005333.5(HCCS):c.253-3T>G	Linear skin defects with multiple congenital anomalies 1 [RCV002291202]	uncertain significance	X	11117264	11117264	Human	1	name
401725706	CV2738144	single nucleotide variant	NM_005333.5(HCCS):c.608+5G>C	Linear skin defects with multiple congenital anomalies 1 [RCV003315497]	uncertain significance	X	11120998	11120998	Human	1	name
152123836	CV1641192	single nucleotide variant	NM_005333.5(HCCS):c.609-19T>C	not provided [RCV002098533]	likely benign	X	11121593	11121593	Human		name
401930996	CV2823851	single nucleotide variant	NM_005333.5(HCCS):c.101-11G>C	not provided [RCV003440969]	benign\|likely benign	X	11114824	11114824	Human		name
405239202	CV2886042	single nucleotide variant	NM_005333.5(HCCS):c.402-11T>C	not provided [RCV003557005]	likely benign	X	11118490	11118490	Human		name
150405397	CV1178659	single nucleotide variant	NM_005333.5(HCCS):c.101-308C>T	not provided [RCV001544845]	likely benign	X	11114527	11114527	Human		name
150511808	CV1212841	single nucleotide variant	NM_005333.5(HCCS):c.253-299G>A	not provided [RCV001598073]	benign	X	11116968	11116968	Human		name
150498935	CV1224504	single nucleotide variant	NM_005333.5(HCCS):c.402-331A>G	not provided [RCV001620334]	benign	X	11118170	11118170	Human		name
156008740	CV2083115	single nucleotide variant	NM_005333.5(HCCS):c.18T>C (p.Ser6=)	not provided [RCV002865987]	likely benign	X	11112078	11112078	Human		name
156009465	CV2099956	single nucleotide variant	NM_005333.5(HCCS):c.21T>C (p.Ala7=)	not provided [RCV002909025]	likely benign	X	11112081	11112081	Human		name
8659708	CV134663	single nucleotide variant	NM_005333.5(HCCS):c.5G>A (p.Gly2Asp)	HCCS-related disorder [RCV003925139]\|Inborn genetic diseases [RCV002354300]\|Intellectual disability [RCV001252505]\|not provided [RCV000117212]\|not specified [RCV000299954]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	11112065	11112065	Human	4	name , trait , alternate_id
405242116	CV2971008	single nucleotide variant	NM_005333.5(HCCS):c.4G>A (p.Gly2Ser)	not provided [RCV003684277]	benign	X	11112064	11112064	Human		name
405090446	CV3044597	microsatellite	NM_005333.5(HCCS):c.608+24_608+26del	not provided [RCV003717666]	benign	X	11121013	11121015	Human		name
405704221	CV3225080	single nucleotide variant	NM_005333.5(HCCS):c.2T>C (p.Met1Thr)	Linear skin defects with multiple congenital anomalies 1 [RCV003990036]	likely pathogenic	X	11112062	11112062	Human	1	name
9688688	CV177760	single nucleotide variant	NM_005333.5(HCCS):c.216G>C (p.Ala72=)	History of neurodevelopmental disorder [RCV000721029]\|not provided [RCV000952267]\|not specified [RCV000153345]	benign\|likely benign	X	11114950	11114950	Human		name
405236797	CV3169027	single nucleotide variant	NM_005333.5(HCCS):c.177C>T (p.Arg59=)	not provided [RCV003866306]	benign	X	11114911	11114911	Human		name
405267694	CV3219458	single nucleotide variant	NM_005333.5(HCCS):c.195G>A (p.Glu65=)	HCCS-related disorder [RCV003969680]	likely benign	X	11114929	11114929	Human		name , trait , alternate_id
15105084	CV729361	single nucleotide variant	NM_005333.5(HCCS):c.189C>T (p.Tyr63=)	HCCS-related disorder [RCV003920791]\|not provided [RCV000893012]	benign	X	11114923	11114923	Human	1	name , trait , alternate_id
156023255	CV1892446	single nucleotide variant	NM_005333.5(HCCS):c.654C>T (p.Cys218=)	not provided [RCV003077730]	benign\|likely benign	X	11121657	11121657	Human		name
10050753	CV192403	single nucleotide variant	NM_005333.5(HCCS):c.95T>C (p.Met32Thr)	not provided [RCV000175802]	uncertain significance	X	11112155	11112155	Human		name
155992999	CV2381665	single nucleotide variant	NM_005333.5(HCCS):c.46A>G (p.Asn16Asp)	Inborn genetic diseases [RCV002733474]	likely benign	X	11112106	11112106	Human	1	name
402502425	CV2869328	single nucleotide variant	NM_005333.5(HCCS):c.489G>A (p.Lys163=)	HCCS-related disorder [RCV003946669]\|not provided [RCV003546045]	benign\|likely benign	X	11118588	11118588	Human	1	name , trait , alternate_id
405213857	CV2879548	single nucleotide variant	NM_005333.5(HCCS):c.474C>T (p.Asn158=)	not provided [RCV003552961]	benign	X	11118573	11118573	Human		name
405123501	CV2885156	single nucleotide variant	NM_005333.5(HCCS):c.633C>T (p.His211=)	not provided [RCV003559319]	likely benign	X	11121636	11121636	Human		name
405216021	CV2971978	single nucleotide variant	NM_005333.5(HCCS):c.540A>T (p.Pro180=)	not provided [RCV003680032]	likely benign	X	11120925	11120925	Human		name
405085358	CV3047681	single nucleotide variant	NM_005333.5(HCCS):c.65C>T (p.Pro22Leu)	not provided [RCV003717433]	uncertain significance	X	11112125	11112125	Human		name
405080239	CV3166763	single nucleotide variant	NM_005333.5(HCCS):c.705C>T (p.Asn235=)	not provided [RCV003851537]	benign	X	11121708	11121708	Human		name
407458176	CV3416294	single nucleotide variant	NM_005333.5(HCCS):c.330G>A (p.Pro110=)	not provided [RCV004599172]	likely benign	X	11117344	11117344	Human		name
597866952	CV3802926	single nucleotide variant	NM_005333.5(HCCS):c.55G>C (p.Ala19Pro)	not provided [RCV005147713]	uncertain significance	X	11112115	11112115	Human		name
13213067	CV430621	single nucleotide variant	NM_005333.5(HCCS):c.94A>T (p.Met32Leu)	not specified [RCV000499573]	likely benign	X	11112154	11112154	Human		name
15154822	CV706074	single nucleotide variant	NM_005333.5(HCCS):c.549C>A (p.Ile183=)	not provided [RCV000946366]	benign	X	11120934	11120934	Human		name
15140577	CV743099	single nucleotide variant	NM_005333.5(HCCS):c.387A>C (p.Ala129=)	not provided [RCV000899344]	likely benign	X	11117401	11117401	Human		name
15151483	CV758231	single nucleotide variant	NM_005333.5(HCCS):c.540A>G (p.Pro180=)	not provided [RCV000923684]	likely benign	X	11120925	11120925	Human		name
126763331	CV1035311	single nucleotide variant	NM_005333.5(HCCS):c.283G>C (p.Asp95His)	not provided [RCV001341237]	uncertain significance	X	11117297	11117297	Human		name
150529485	CV1289032	single nucleotide variant	NM_005333.5(HCCS):c.236T>C (p.Leu79Pro)	not provided [RCV001727501]	uncertain significance	X	11114970	11114970	Human		name
8659706	CV134661	single nucleotide variant	NM_005333.5(HCCS):c.215C>T (p.Ala72Val)	Inborn genetic diseases [RCV002316305]\|not provided [RCV001588929]\|not specified [RCV000117210]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	11114949	11114949	Human	1	name
156126727	CV2223706	single nucleotide variant	NM_005333.5(HCCS):c.168C>A (p.His56Gln)	Inborn genetic diseases [RCV002708196]	uncertain significance	X	11114902	11114902	Human	1	name
329369500	CV2461135	single nucleotide variant	NM_005333.5(HCCS):c.178G>A (p.Ala60Thr)	Inborn genetic diseases [RCV003209061]	uncertain significance	X	11114912	11114912	Human	1	name
405226275	CV2892335	single nucleotide variant	NM_005333.5(HCCS):c.175C>A (p.Arg59Ser)	not provided [RCV003554716]	uncertain significance	X	11114909	11114909	Human		name
405029758	CV3080616	single nucleotide variant	NM_005333.5(HCCS):c.182A>G (p.Tyr61Cys)	not provided [RCV003739055]	uncertain significance	X	11114916	11114916	Human		name
597662951	CV3682328	single nucleotide variant	NM_005333.5(HCCS):c.131C>T (p.Pro44Leu)	Inborn genetic diseases [RCV004977876]	uncertain significance	X	11114865	11114865	Human	1	name
597945810	CV3844953	single nucleotide variant	NM_005333.5(HCCS):c.107C>T (p.Pro36Leu)	not provided [RCV005188939]\|not specified [RCV005407408]	likely benign\|uncertain significance	X	11114841	11114841	Human		name
13528983	CV513680	single nucleotide variant	NM_005333.5(HCCS):c.199C>A (p.Pro67Thr)	Linear skin defects with multiple congenital anomalies 1 [RCV000626178]	likely pathogenic\|uncertain significance	X	11114933	11114933	Human	1	name
13609130	CV535351	single nucleotide variant	NM_005333.5(HCCS):c.161C>T (p.Pro54Leu)	not provided [RCV000656298]	uncertain significance	X	11114895	11114895	Human		name
15152316	CV706073	single nucleotide variant	NM_005333.5(HCCS):c.175C>T (p.Arg59Cys)	not provided [RCV000945859]	benign	X	11114909	11114909	Human		name
8642190	CV101174	single nucleotide variant	NM_005333.5(HCCS):c.521C>T (p.Ala174Val)	HCCS-related disorder [RCV003945019]\|not provided [RCV000081288]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	11118620	11118620	Human	1	name , trait , alternate_id
150530975	CV1310554	single nucleotide variant	NM_005333.5(HCCS):c.736C>T (p.Arg246Cys)	Linear skin defects with multiple congenital anomalies 1 [RCV001775481]	uncertain significance	X	11121739	11121739	Human	1	name
151874564	CV1475819	single nucleotide variant	NM_005333.5(HCCS):c.638G>C (p.Trp213Ser)	not provided [RCV002019376]	pathogenic\|likely pathogenic	X	11121641	11121641	Human		name
155729091	CV1808318	single nucleotide variant	NM_005333.5(HCCS):c.448A>G (p.Ile150Val)	Inborn genetic diseases [RCV002328592]\|not provided [RCV003688968]	benign\|likely benign\|uncertain significance	X	11118547	11118547	Human	1	name
156140388	CV2109882	single nucleotide variant	NM_005333.5(HCCS):c.763G>A (p.Val255Ile)	not provided [RCV002928533]	benign	X	11121766	11121766	Human		name
155906608	CV2303344	single nucleotide variant	NM_005333.5(HCCS):c.569A>G (p.Lys190Arg)	Inborn genetic diseases [RCV002901895]	uncertain significance	X	11120954	11120954	Human	1	name
8562631	CV26709	single nucleotide variant	NM_005333.5(HCCS):c.589C>T (p.Arg197Ter)	Linear skin defects with multiple congenital anomalies 1 [RCV000020631]	pathogenic	X	11120974	11120974	Human	1	name
8562632	CV26710	single nucleotide variant	NM_005333.5(HCCS):c.649C>T (p.Arg217Cys)	HCCS-related disorder [RCV003398486]\|Linear skin defects with multiple congenital anomalies 1 [RCV000020632]	pathogenic\|likely pathogenic	X	11121652	11121652	Human	2	name , trait , alternate_id
401866785	CV2748723	single nucleotide variant	NM_005333.5(HCCS):c.334G>A (p.Ala112Thr)	Linear skin defects with multiple congenital anomalies 1 [RCV003331550]	not provided	X	11117348	11117348	Human		name
401919307	CV2798126	single nucleotide variant	NM_005333.5(HCCS):c.439A>G (p.Met147Val)	HCCS-related disorder [RCV003402177]	uncertain significance	X	11118538	11118538	Human		name , trait , alternate_id
401930998	CV2823853	single nucleotide variant	NM_005333.5(HCCS):c.704A>G (p.Asn235Ser)	not provided [RCV003440971]	likely benign\|conflicting interpretations of pathogenicity	X	11121707	11121707	Human		name
404977376	CV2850232	single nucleotide variant	NM_005333.5(HCCS):c.520G>T (p.Ala174Ser)	Linear skin defects with multiple congenital anomalies 1 [RCV003486106]	uncertain significance	X	11118619	11118619	Human	1	name
405151962	CV2888653	single nucleotide variant	NM_005333.5(HCCS):c.606G>C (p.Met202Ile)	not provided [RCV003561793]	uncertain significance	X	11120991	11120991	Human		name
405268986	CV3201174	single nucleotide variant	NM_005333.5(HCCS):c.461A>C (p.His154Pro)	HCCS-related disorder [RCV003899280]	uncertain significance	X	11118560	11118560	Human		name , trait , alternate_id
8566934	CV34296	single nucleotide variant	NM_005333.5(HCCS):c.475G>A (p.Glu159Lys)	Linear skin defects with multiple congenital anomalies 1 [RCV000020630]	pathogenic\|not provided	X	11118574	11118574	Human	1	name
596938211	CV3550001	single nucleotide variant	NM_005333.5(HCCS):c.404G>A (p.Trp135Ter)	Linear skin defects with multiple congenital anomalies 1 [RCV004813305]	likely pathogenic	X	11118503	11118503	Human	1	name
596938212	CV3550002	single nucleotide variant	NM_005333.5(HCCS):c.603G>A (p.Trp201Ter)	Linear skin defects with multiple congenital anomalies 1 [RCV004813306]	likely pathogenic	X	11120988	11120988	Human	1	name
596938213	CV3550003	single nucleotide variant	NM_005333.5(HCCS):c.650G>A (p.Arg217His)	Linear skin defects with multiple congenital anomalies 1 [RCV004813307]	likely pathogenic	X	11121653	11121653	Human	1	name
596938214	CV3550004	single nucleotide variant	NM_005333.5(HCCS):c.715C>T (p.Gln239Ter)	Linear skin defects with multiple congenital anomalies 1 [RCV004813308]	likely pathogenic	X	11121718	11121718	Human	1	name
597833446	CV3735578	single nucleotide variant	NM_005333.5(HCCS):c.803C>A (p.Ser268Ter)	not provided [RCV005063440]	uncertain significance	X	11121806	11121806	Human		name
597906107	CV3738722	single nucleotide variant	NM_005333.5(HCCS):c.803C>T (p.Ser268Leu)	not provided [RCV005072956]	likely benign	X	11121806	11121806	Human		name
597929044	CV3749209	single nucleotide variant	NM_005333.5(HCCS):c.785C>G (p.Ala262Gly)	not provided [RCV005075665]	benign	X	11121788	11121788	Human		name
597946442	CV3790133	single nucleotide variant	NM_005333.5(HCCS):c.727C>G (p.Leu243Val)	not provided [RCV005134834]	uncertain significance	X	11121730	11121730	Human		name
598266069	CV3971559	single nucleotide variant	NM_005333.5(HCCS):c.712T>C (p.Tyr238His)	Inborn genetic diseases [RCV005349179]	uncertain significance	X	11121715	11121715	Human	1	name
617152097	CV4018290	single nucleotide variant	NM_005333.5(HCCS):c.573G>T (p.Glu191Asp)	not specified [RCV005418550]	uncertain significance	X	11120958	11120958	Human		name
15151897	CV706075	single nucleotide variant	NM_005333.5(HCCS):c.697G>A (p.Glu233Lys)	Linear skin defects with multiple congenital anomalies 1 [RCV005400479]\|not provided [RCV000945776]	benign	X	11121700	11121700	Human	1	name
597896036	CV3786025	microsatellite	NM_005333.5(HCCS):c.397_400del (p.Lys133fs)	not provided [RCV005126398]	uncertain significance	X	11117407	11117410	Human		name
40903308	CV975875	insertion	NM_005333.5(HCCS):c.308_309insAGT (p.Val103dup)	Linear skin defects with multiple congenital anomalies 1 [RCV001269290]	likely pathogenic	X	11117320	11117321	Human	1	name

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)

Create Name:

Description:

Send us a Message