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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 GDNF:

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
ENSG00000168621	GDNF	0	0	7	ENSG00000168621	ENST00000326524	ENSP00000317145	glial cell derived neurotrophic factor [Source:HGNC Symbol;Acc:4232]	5	37812779	37839788	-1	p13.2	37812779	37839782	GDNF	GDNF-001	HGNC Symbol	HGNC transcript name	7	46.08	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2668	4232	GDNF	NM_000514	27527

MSeqDR Master Exome Data Set M1: 199 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	5	37812870	C	T	ENST00000326524	ENSG00000168621	37812779	37839788	ENSP00000317145	GDNF	-1	GDNF_HUMAN	-	-	3'_UTR	rs77776214	0.1296	-	lod=877:693	-	-	-	het	10
2	5	37812870	C	T	ENST00000326524	ENSG00000168621	37812779	37839788	ENSP00000317145	GDNF	-1	GDNF_HUMAN	-	-	3'_UTR	rs77776214	0.1296	-	lod=877:693	-	-	-	hom	1
3	5	37812870	C	T	ENST00000344622	ENSG00000168621	37812779	37839788	ENSP00000339703	GDNF	-1	GDNF_HUMAN	-	-	3'_UTR	rs77776214	0.1296	-	lod=877:693	-	-	-	het	10
4	5	37812870	C	T	ENST00000344622	ENSG00000168621	37812779	37839788	ENSP00000339703	GDNF	-1	GDNF_HUMAN	-	-	3'_UTR	rs77776214	0.1296	-	lod=877:693	-	-	-	hom	1
5	5	37812875	A	G	ENST00000326524	ENSG00000168621	37812779	37839788	ENSP00000317145	GDNF	-1	GDNF_HUMAN	-	-	3'_UTR	NA	-	-	lod=877:693	-	-	-	het	1
6	5	37812875	A	G	ENST00000344622	ENSG00000168621	37812779	37839788	ENSP00000339703	GDNF	-1	GDNF_HUMAN	-	-	3'_UTR	NA	-	-	lod=877:693	-	-	-	het	1
7	5	37812921	C	-G	ENST00000326524	ENSG00000168621	37812779	37839788	ENSP00000317145	GDNF	-1	GDNF_HUMAN	-	-	3'_UTR	rs35669631	-	-	lod=877:693	-	-	-	hom	67
8	5	37812921	C	-G	ENST00000326524	ENSG00000168621	37812779	37839788	ENSP00000317145	GDNF	-1	GDNF_HUMAN	-	-	3'_UTR	rs35669631	-	-	lod=877:693	-	-	-	het	281
9	5	37812921	C	-G	ENST00000344622	ENSG00000168621	37812779	37839788	ENSP00000339703	GDNF	-1	GDNF_HUMAN	-	-	3'_UTR	rs35669631	-	-	lod=877:693	-	-	-	hom	67
10	5	37812921	C	-G	ENST00000344622	ENSG00000168621	37812779	37839788	ENSP00000339703	GDNF	-1	GDNF_HUMAN	-	-	3'_UTR	rs35669631	-	-	lod=877:693	-	-	-	het	281
11	5	37812924	T	-A	ENST00000326524	ENSG00000168621	37812779	37839788	ENSP00000317145	GDNF	-1	GDNF_HUMAN	-	-	3'_UTR	rs35549586	-	-	-	-	-	-	het	36
12	5	37812924	T	-A	ENST00000326524	ENSG00000168621	37812779	37839788	ENSP00000317145	GDNF	-1	GDNF_HUMAN	-	-	3'_UTR	rs35549586	-	-	-	-	-	-	hom	11
13	5	37812924	T	-A	ENST00000344622	ENSG00000168621	37812779	37839788	ENSP00000339703	GDNF	-1	GDNF_HUMAN	-	-	3'_UTR	rs35549586	-	-	-	-	-	-	het	36
14	5	37812924	T	-A	ENST00000344622	ENSG00000168621	37812779	37839788	ENSP00000339703	GDNF	-1	GDNF_HUMAN	-	-	3'_UTR	rs35549586	-	-	-	-	-	-	hom	11
15	5	37812925	A	G	ENST00000326524	ENSG00000168621	37812779	37839788	ENSP00000317145	GDNF	-1	GDNF_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	5	37812925	A	G	ENST00000344622	ENSG00000168621	37812779	37839788	ENSP00000339703	GDNF	-1	GDNF_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	5	37813104	T	-G	ENST00000326524	ENSG00000168621	37812779	37839788	ENSP00000317145	GDNF	-1	GDNF_HUMAN	-	-	3'_UTR	rs200932153	-	-	-	-	-	-	het	1
18	5	37813104	T	+G	ENST00000326524	ENSG00000168621	37812779	37839788	ENSP00000317145	GDNF	-1	GDNF_HUMAN	-	-	3'_UTR	rs200933642	-	-	-	-	-	-	het	17
19	5	37813104	T	-G	ENST00000344622	ENSG00000168621	37812779	37839788	ENSP00000339703	GDNF	-1	GDNF_HUMAN	-	-	3'_UTR	rs200932153	-	-	-	-	-	-	het	1
20	5	37813104	T	+G	ENST00000344622	ENSG00000168621	37812779	37839788	ENSP00000339703	GDNF	-1	GDNF_HUMAN	-	-	3'_UTR	rs200933642	-	-	-	-	-	-	het	17

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Transcripts and variants in the surrounding GDNF 5:37812779..37839788 region Gbrowse