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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 NTRK1:

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
ENSG00000198400	NTRK1	0	0	27	ENSG00000198400	ENST00000489021		neurotrophic tyrosine kinase, receptor, type 1 [Source:HGNC Symbol;Acc:8031]	1	156785432	156851642	1	q23.1	156785432	156843682	NTRK1	NTRK1-008	HGNC Symbol	HGNC transcript name	10	53.11	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	4914	8031	NTRK1		27511

MSeqDR Master Exome Data Set M1: 389 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	156785535	A	G	ENST00000392302	ENSG00000198400	156785432	156851642	ENSP00000376120	NTRK1	1	NTRK1_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	1	156785535	A	G	ENST00000489021	ENSG00000198400	156785432	156851642	-	NTRK1	1	-	c.104A>G	p.N35S	non-syn	NA	-	-	-	-	-	-	het	1
3	1	156785535	A	G	ENST00000497019	ENSG00000198400	156785432	156851642	ENSP00000436804	NTRK1	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	1	156785544	A	-C	ENST00000392302	ENSG00000198400	156785432	156851642	ENSP00000376120	NTRK1	1	NTRK1_HUMAN	-	-	5'_UTR	rs146775862	-	-	-	-	-	-	het	5
5	1	156785544	A	-C	ENST00000489021	ENSG00000198400	156785432	156851642	-	NTRK1	1	-	c.114_114del	p.H38NA	non-syn	rs146775862	-	-	-	-	-	-	het	5
6	1	156785544	A	-C	ENST00000497019	ENSG00000198400	156785432	156851642	ENSP00000436804	NTRK1	1	-	-	-	5'_UTR	rs146775862	-	-	-	-	-	-	het	5
7	1	156785587	A	C	ENST00000392302	ENSG00000198400	156785432	156851642	ENSP00000376120	NTRK1	1	NTRK1_HUMAN	-	-	5'_UTR	NA	-	C=1/A=8599;C=0/A=4406;C=1/A=13005	-	-	-	-	het	1
8	1	156785587	A	C	ENST00000489021	ENSG00000198400	156785432	156851642	-	NTRK1	1	-	c.156A>C	p.L52L	syn	NA	-	C=1/A=8599;C=0/A=4406;C=1/A=13005	-	-	-	-	het	1
9	1	156785587	A	C	ENST00000497019	ENSG00000198400	156785432	156851642	ENSP00000436804	NTRK1	1	-	-	-	5'_UTR	NA	-	C=1/A=8599;C=0/A=4406;C=1/A=13005	-	-	-	-	het	1
10	1	156785617	G	A	ENST00000392302	ENSG00000198400	156785432	156851642	ENSP00000376120	NTRK1	1	NTRK1_HUMAN	-	-	5'_UTR	rs1800601	0.70078	A=5813/G=2787;A=2221/G=2185;A=8034/G=4972	-	-	-	-	hom	521
11	1	156785617	G	A	ENST00000392302	ENSG00000198400	156785432	156851642	ENSP00000376120	NTRK1	1	NTRK1_HUMAN	-	-	5'_UTR	rs1800601	0.70078	A=5813/G=2787;A=2221/G=2185;A=8034/G=4972	-	-	-	-	het	412
12	1	156785617	G	A	ENST00000489021	ENSG00000198400	156785432	156851642	-	NTRK1	1	-	c.186G>A	p.S62S	syn	rs1800601	0.70078	A=5813/G=2787;A=2221/G=2185;A=8034/G=4972	-	-	-	-	hom	521
13	1	156785617	G	A	ENST00000489021	ENSG00000198400	156785432	156851642	-	NTRK1	1	-	c.186G>A	p.S62S	syn	rs1800601	0.70078	A=5813/G=2787;A=2221/G=2185;A=8034/G=4972	-	-	-	-	het	412
14	1	156785617	G	A	ENST00000497019	ENSG00000198400	156785432	156851642	ENSP00000436804	NTRK1	1	-	-	-	5'_UTR	rs1800601	0.70078	A=5813/G=2787;A=2221/G=2185;A=8034/G=4972	-	-	-	-	hom	521
15	1	156785617	G	A	ENST00000497019	ENSG00000198400	156785432	156851642	ENSP00000436804	NTRK1	1	-	-	-	5'_UTR	rs1800601	0.70078	A=5813/G=2787;A=2221/G=2185;A=8034/G=4972	-	-	-	-	het	412
16	1	156811896	C	A	ENST00000392302	ENSG00000198400	156785432	156851642	ENSP00000376120	NTRK1	1	NTRK1_HUMAN	c.33C>A	p.P11P	syn	rs145596747	0.0015	-	lod=102:463	-	-	-	het	2
17	1	156811896	C	A	ENST00000489021	ENSG00000198400	156785432	156851642	-	NTRK1	1	-	c.223C>A	p.L75I	non-syn	rs145596747	0.0015	-	lod=102:463	-	-	-	het	2
18	1	156811896	C	A	ENST00000497019	ENSG00000198400	156785432	156851642	ENSP00000436804	NTRK1	1	-	c.33C>A	p.P11P	syn	rs145596747	0.0015	-	lod=102:463	-	-	-	het	2
19	1	156811896	C	A	ENST00000530298	ENSG00000198400	156785432	156851642	-	NTRK1	1	-	c.181C>A	p.L61I	non-syn	rs145596747	0.0015	-	lod=102:463	-	-	-	het	2
20	1	156830688	A	G	ENST00000358660	ENSG00000198400	156785432	156851642	ENSP00000351486	NTRK1	1	-	-	-	5'_UTR	NA	-	-	lod=28:325	-	-	-	het	4

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Transcripts and variants in the surrounding NTRK1 1:156785432..156851642 region Gbrowse