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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 TTC7A:

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
ENSG00000068724	TTC7A	0	0	11	ENSG00000068724	ENST00000409245	ENSP00000386307	tetratricopeptide repeat domain 7A [Source:HGNC Symbol;Acc:19750]	2	47143296	47303276	1	p21	47143296	47301187	TTC7A	TTC7A-005	HGNC Symbol	HGNC transcript name	14	50.88	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	PUTATIVE	57217	19750	TTC7A		27508

MSeqDR Master Exome Data Set M1: 807 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	2	47144394	C	G	ENST00000409245	ENSG00000068724	47143296	47303276	ENSP00000386307	TTC7A	1	-	c.60C>G	p.L20L	syn	rs76192704	0.0371	-	-	-	-	-	het	59
2	2	47144394	C	G	ENST00000409245	ENSG00000068724	47143296	47303276	ENSP00000386307	TTC7A	1	-	c.60C>G	p.L20L	syn	rs76192704	0.0371	-	-	-	-	-	hom	2
3	2	47168327	C	A	ENST00000319190	ENSG00000068724	47143296	47303276	ENSP00000316699	TTC7A	1	TTC7A_HUMAN	-	-	5'_UTR	rs6754439	0.239	-	-	-	-	-	het	3
4	2	47168374	T	-GCAGCGGCGGCGGCGGCG	ENST00000319190	ENSG00000068724	47143296	47303276	ENSP00000316699	TTC7A	1	TTC7A_HUMAN	-	-	5'_UTR	NA	-	-	lod=48:383	-	-	-	het	1
5	2	47168437	A	G	ENST00000319190	ENSG00000068724	47143296	47303276	ENSP00000316699	TTC7A	1	TTC7A_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
6	2	47168437	A	G	ENST00000394850	ENSG00000068724	47143296	47303276	ENSP00000378320	TTC7A	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
7	2	47168437	A	G	ENST00000461601	ENSG00000068724	47143296	47303276	-	TTC7A	1	-	c.24A>G	p.V8V	syn	NA	-	-	-	-	-	-	het	1
8	2	47168437	A	G	ENST00000536057	ENSG00000068724	47143296	47303276	ENSP00000445265	TTC7A	1	TTC7A_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
9	2	47168503	G	+TGC	ENST00000319190	ENSG00000068724	47143296	47303276	ENSP00000316699	TTC7A	1	TTC7A_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
10	2	47168503	G	+TGC	ENST00000394850	ENSG00000068724	47143296	47303276	ENSP00000378320	TTC7A	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
11	2	47168503	G	+TGC	ENST00000461601	ENSG00000068724	47143296	47303276	-	TTC7A	1	-	c.90_91insTGC	p.C31NA	non-syn	NA	-	-	-	-	-	-	het	2
12	2	47168503	G	+TGC	ENST00000536057	ENSG00000068724	47143296	47303276	ENSP00000445265	TTC7A	1	TTC7A_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	2
13	2	47168533	C	-GCCGCCCGGGCCCCCGCT	ENST00000319190	ENSG00000068724	47143296	47303276	ENSP00000316699	TTC7A	1	TTC7A_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	19
14	2	47168533	C	-GCCGCCCGGGCCCCCGCT	ENST00000394850	ENSG00000068724	47143296	47303276	ENSP00000378320	TTC7A	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	19
15	2	47168533	C	-GCCGCCCGGGCCCCCGCT	ENST00000461601	ENSG00000068724	47143296	47303276	-	TTC7A	1	-	c.121_138del	p.A41NA	non-syn	NA	-	-	-	-	-	-	het	19
16	2	47168533	C	-GCCGCCCGGGCCCCCGCT	ENST00000536057	ENSG00000068724	47143296	47303276	ENSP00000445265	TTC7A	1	TTC7A_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	19
17	2	47168550	C	T	ENST00000319190	ENSG00000068724	47143296	47303276	ENSP00000316699	TTC7A	1	TTC7A_HUMAN	-	-	5'_UTR	NA	-	-	lod=14:251	-	-	-	het	1
18	2	47168550	C	T	ENST00000394850	ENSG00000068724	47143296	47303276	ENSP00000378320	TTC7A	1	-	-	-	5'_UTR	NA	-	-	lod=14:251	-	-	-	het	1
19	2	47168550	C	T	ENST00000461601	ENSG00000068724	47143296	47303276	-	TTC7A	1	-	c.137C>T	p.A46V	non-syn	NA	-	-	lod=14:251	-	-	-	het	1
20	2	47168550	C	T	ENST00000536057	ENSG00000068724	47143296	47303276	ENSP00000445265	TTC7A	1	TTC7A_HUMAN	-	-	5'_UTR	NA	-	-	lod=14:251	-	-	-	het	1

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Transcripts and variants in the surrounding TTC7A 2:47143296..47303276 region Gbrowse