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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 PLCD1:

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
ENSG00000187091	PLCD1	0	0	3	ENSG00000187091	ENST00000417185		phospholipase C, delta 1 [Source:HGNC Symbol;Acc:9060]	3	38048987	38071253	-1	p22.2	38048987	38049826	PLCD1	PLCD1-004	HGNC Symbol	HGNC transcript name	9	53.99	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	5333	9060	PLCD1		27517

MSeqDR Master Exome Data Set M1: 229 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	3	38049029	T	-G	ENST00000334661	ENSG00000187091	38048987	38071253	ENSP00000335600	PLCD1	-1	PLCD1_HUMAN	-	-	3'_UTR	rs57208122	-	-	-	-	-	-	het	212
2	3	38049029	T	-G	ENST00000334661	ENSG00000187091	38048987	38071253	ENSP00000335600	PLCD1	-1	PLCD1_HUMAN	-	-	3'_UTR	rs57208122	-	-	-	-	-	-	hom	21
3	3	38049029	T	-G	ENST00000417185	ENSG00000187091	38048987	38071253	-	PLCD1	-1	-	c.642_642del	p.A214NA	non-syn	rs57208122	-	-	-	-	-	-	het	212
4	3	38049029	T	-G	ENST00000417185	ENSG00000187091	38048987	38071253	-	PLCD1	-1	-	c.642_642del	p.A214NA	non-syn	rs57208122	-	-	-	-	-	-	hom	21
5	3	38049029	T	-G	ENST00000461445	ENSG00000187091	38048987	38071253	-	PLCD1	-1	-	c.3228_3228del	p.A1076NA	non-syn	rs57208122	-	-	-	-	-	-	het	212
6	3	38049029	T	-G	ENST00000461445	ENSG00000187091	38048987	38071253	-	PLCD1	-1	-	c.3228_3228del	p.A1076NA	non-syn	rs57208122	-	-	-	-	-	-	hom	21
7	3	38049029	T	-G	ENST00000463876	ENSG00000187091	38048987	38071253	ENSP00000430344	PLCD1	-1	PLCD1_HUMAN	-	-	3'_UTR	rs57208122	-	-	-	-	-	-	het	212
8	3	38049029	T	-G	ENST00000463876	ENSG00000187091	38048987	38071253	ENSP00000430344	PLCD1	-1	PLCD1_HUMAN	-	-	3'_UTR	rs57208122	-	-	-	-	-	-	hom	21
9	3	38049033	C	T	ENST00000334661	ENSG00000187091	38048987	38071253	ENSP00000335600	PLCD1	-1	PLCD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	3	38049033	C	T	ENST00000417185	ENSG00000187091	38048987	38071253	-	PLCD1	-1	-	c.639G>A	p.P213P	syn	NA	-	-	-	-	-	-	het	1
11	3	38049033	C	T	ENST00000461445	ENSG00000187091	38048987	38071253	-	PLCD1	-1	-	c.3225G>A	p.P1075P	syn	NA	-	-	-	-	-	-	het	1
12	3	38049033	C	T	ENST00000463876	ENSG00000187091	38048987	38071253	ENSP00000430344	PLCD1	-1	PLCD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	3	38049110	C	T	ENST00000334661	ENSG00000187091	38048987	38071253	ENSP00000335600	PLCD1	-1	PLCD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	3	38049110	C	T	ENST00000417185	ENSG00000187091	38048987	38071253	-	PLCD1	-1	-	c.562G>A	p.G188R	non-syn	NA	-	-	-	-	-	-	het	1
15	3	38049110	C	T	ENST00000461445	ENSG00000187091	38048987	38071253	-	PLCD1	-1	-	c.3148G>A	p.G1050R	non-syn	NA	-	-	-	-	-	-	het	1
16	3	38049110	C	T	ENST00000463876	ENSG00000187091	38048987	38071253	ENSP00000430344	PLCD1	-1	PLCD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	3	38049352	G	C	ENST00000334661	ENSG00000187091	38048987	38071253	ENSP00000335600	PLCD1	-1	PLCD1_HUMAN	-	-	-3bp 3'_splice_site	NA	-	C=2/G=8598;C=0/G=4406;C=2/G=13004	lod=134:493	-	-	-	het	3
18	3	38049352	G	C	ENST00000417185	ENSG00000187091	38048987	38071253	-	PLCD1	-1	-	-	-	-3bp 3'_splice_site	NA	-	C=2/G=8598;C=0/G=4406;C=2/G=13004	lod=134:493	-	-	-	het	3
19	3	38049352	G	C	ENST00000461445	ENSG00000187091	38048987	38071253	-	PLCD1	-1	-	-	-	-3bp 3'_splice_site	NA	-	C=2/G=8598;C=0/G=4406;C=2/G=13004	lod=134:493	-	-	-	het	3
20	3	38049352	G	C	ENST00000463876	ENSG00000187091	38048987	38071253	ENSP00000430344	PLCD1	-1	PLCD1_HUMAN	-	-	-3bp 3'_splice_site	NA	-	C=2/G=8598;C=0/G=4406;C=2/G=13004	lod=134:493	-	-	-	het	3

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Transcripts and variants in the surrounding PLCD1 3:38048987..38071253 region Gbrowse