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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term ADCK3:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000163050	ADCK3	1	119	59	ENSG00000163050	ENST00000366779	ENSP00000355741	aarF domain containing kinase 3 [Source:HGNC Symbol;Acc:16812]	1	227085237	227175246	1	q42.13	227085237	227175246	ADCK3	ADCK3-004	HGNC Symbol	HGNC transcript name	12	49.11	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	56997	16812	ADCK3		27511

MSeqDR Master Exome Data Set M1: 696 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	1	227085390	G	A	ENST00000366779	ENSG00000163050	227085237	227175246	ENSP00000355741	ADCK3	1	ADCK3_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	6
2	1	227085394	A	G	ENST00000366779	ENSG00000163050	227085237	227175246	ENSP00000355741	ADCK3	1	ADCK3_HUMAN	-	-	5'_UTR	rs114893547	0.01	-	-	-	-	-	het	22
3	1	227085445	C	T	ENST00000366779	ENSG00000163050	227085237	227175246	ENSP00000355741	ADCK3	1	ADCK3_HUMAN	-	-	5'_UTR	rs115762664	0.0099	-	-	-	-	-	het	1
4	1	227085446	G	A	ENST00000366779	ENSG00000163050	227085237	227175246	ENSP00000355741	ADCK3	1	ADCK3_HUMAN	-	-	5'_UTR	rs139814638	0.00183	-	-	-	-	-	het	4
5	1	227085462	T	C	ENST00000366779	ENSG00000163050	227085237	227175246	ENSP00000355741	ADCK3	1	ADCK3_HUMAN	-	-	5'_UTR	rs1800672	0.3581	-	-	-	-	-	het	380
6	1	227085462	T	C	ENST00000366779	ENSG00000163050	227085237	227175246	ENSP00000355741	ADCK3	1	ADCK3_HUMAN	-	-	5'_UTR	rs1800672	0.3581	-	-	-	-	-	hom	52
7	1	227085574	G	C	ENST00000366779	ENSG00000163050	227085237	227175246	ENSP00000355741	ADCK3	1	ADCK3_HUMAN	-	-	5'_UTR	rs16846631	0.0517	-	-	-	-	-	het	22
8	1	227085574	G	C	ENST00000366779	ENSG00000163050	227085237	227175246	ENSP00000355741	ADCK3	1	ADCK3_HUMAN	-	-	5'_UTR	rs16846631	0.0517	-	-	-	-	-	hom	2
9	1	227085646	C	T	ENST00000366779	ENSG00000163050	227085237	227175246	ENSP00000355741	ADCK3	1	ADCK3_HUMAN	-	-	5'_UTR	rs1800673	0.3418	-	-	-	-	-	het	285
10	1	227085646	C	T	ENST00000366779	ENSG00000163050	227085237	227175246	ENSP00000355741	ADCK3	1	ADCK3_HUMAN	-	-	5'_UTR	rs1800673	0.3418	-	-	-	-	-	hom	38
11	1	227085738	A	G	ENST00000366779	ENSG00000163050	227085237	227175246	ENSP00000355741	ADCK3	1	ADCK3_HUMAN	-	-	5'_UTR	rs71648404	0.18015	-	-	-	-	-	hom	19
12	1	227085738	A	G	ENST00000366779	ENSG00000163050	227085237	227175246	ENSP00000355741	ADCK3	1	ADCK3_HUMAN	-	-	5'_UTR	rs71648404	0.18015	-	-	-	-	-	het	96
13	1	227085824	A	G	ENST00000366779	ENSG00000163050	227085237	227175246	ENSP00000355741	ADCK3	1	ADCK3_HUMAN	-	-	5'_UTR	rs1800674	0.61793	-	-	-	-	-	het	5
14	1	227085824	A	G	ENST00000366779	ENSG00000163050	227085237	227175246	ENSP00000355741	ADCK3	1	ADCK3_HUMAN	-	-	5'_UTR	rs1800674	0.61793	-	-	-	-	-	hom	6
15	1	227087243	G	T	ENST00000366779	ENSG00000163050	227085237	227175246	ENSP00000355741	ADCK3	1	ADCK3_HUMAN	-	-	5'_UTR	rs16846644	0.3394	-	-	-	-	-	het	1
16	1	227087243	G	T	ENST00000485677	ENSG00000163050	227085237	227175246	-	ADCK3	1	-	c.138G>T	p.M46I	non-syn	rs16846644	0.3394	-	-	-	-	-	het	1
17	1	227097391	T	C	ENST00000366779	ENSG00000163050	227085237	227175246	ENSP00000355741	ADCK3	1	ADCK3_HUMAN	-	-	-12bp 3'_splice_site	rs12032671	0.1503	-	-	-	-	-	het	1
18	1	227097391	T	C	ENST00000366779	ENSG00000163050	227085237	227175246	ENSP00000355741	ADCK3	1	ADCK3_HUMAN	-	-	-12bp 3'_splice_site	rs12032671	0.1503	-	-	-	-	-	hom	1
19	1	227149111	A	G	ENST00000366775	ENSG00000163050	227085237	227175246	ENSP00000355737	ADCK3	1	-	-	-	5'_UTR	NA	-	-	lod=196:533	DAMAGING	P	-	het	1
20	1	227149111	A	G	ENST00000366776	ENSG00000163050	227085237	227175246	ENSP00000355738	ADCK3	1	-	c.25A>G	p.I9V	non-syn	NA	-	-	lod=196:533	DAMAGING	P	-	het	1

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Transcripts and variants in the surrounding ADCK3 1:227085237..227175246 region Gbrowse