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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 DDHD1:

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
ENSG00000100523	DDHD1	0	0	1	ENSG00000100523	ENST00000323669	ENSP00000327104	DDHD domain containing 1 [Source:HGNC Symbol;Acc:19714]	14	53510686	53620000	-1	q22.1	53510686	53619816	DDHD1	DDHD1-003	HGNC Symbol	HGNC transcript name	9	38.19	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	80821	19714	DDHD1	NM_001160148	27520

MSeqDR Master Exome Data Set M1: 265 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	14	53510734	T	C	ENST00000323669	ENSG00000100523	53510686	53620000	ENSP00000327104	DDHD1	-1	DDHD1_HUMAN	-	-	3'_UTR	rs17126074	0.1615	-	lod=489:631	-	-	-	het	34
2	14	53510734	T	C	ENST00000357758	ENSG00000100523	53510686	53620000	ENSP00000350401	DDHD1	-1	DDHD1_HUMAN	-	-	3'_UTR	rs17126074	0.1615	-	lod=489:631	-	-	-	het	34
3	14	53510734	T	C	ENST00000395606	ENSG00000100523	53510686	53620000	ENSP00000378970	DDHD1	-1	DDHD1_HUMAN	-	-	3'_UTR	rs17126074	0.1615	-	lod=489:631	-	-	-	het	34
4	14	53510741	C	T	ENST00000323669	ENSG00000100523	53510686	53620000	ENSP00000327104	DDHD1	-1	DDHD1_HUMAN	-	-	3'_UTR	rs140035321	0.0014	-	lod=489:631	-	-	-	het	1
5	14	53510741	C	T	ENST00000357758	ENSG00000100523	53510686	53620000	ENSP00000350401	DDHD1	-1	DDHD1_HUMAN	-	-	3'_UTR	rs140035321	0.0014	-	lod=489:631	-	-	-	het	1
6	14	53510741	C	T	ENST00000395606	ENSG00000100523	53510686	53620000	ENSP00000378970	DDHD1	-1	DDHD1_HUMAN	-	-	3'_UTR	rs140035321	0.0014	-	lod=489:631	-	-	-	het	1
7	14	53510811	C	G	ENST00000323669	ENSG00000100523	53510686	53620000	ENSP00000327104	DDHD1	-1	DDHD1_HUMAN	-	-	3'_UTR	rs12432928	0.0146	-	lod=489:631	-	-	-	het	4
8	14	53510811	C	G	ENST00000357758	ENSG00000100523	53510686	53620000	ENSP00000350401	DDHD1	-1	DDHD1_HUMAN	-	-	3'_UTR	rs12432928	0.0146	-	lod=489:631	-	-	-	het	4
9	14	53510811	C	G	ENST00000395606	ENSG00000100523	53510686	53620000	ENSP00000378970	DDHD1	-1	DDHD1_HUMAN	-	-	3'_UTR	rs12432928	0.0146	-	lod=489:631	-	-	-	het	4
10	14	53510850	T	C	ENST00000323669	ENSG00000100523	53510686	53620000	ENSP00000327104	DDHD1	-1	DDHD1_HUMAN	-	-	3'_UTR	rs72688253	0.02041	-	lod=489:631	-	-	-	het	16
11	14	53510850	T	C	ENST00000357758	ENSG00000100523	53510686	53620000	ENSP00000350401	DDHD1	-1	DDHD1_HUMAN	-	-	3'_UTR	rs72688253	0.02041	-	lod=489:631	-	-	-	het	16
12	14	53510850	T	C	ENST00000395606	ENSG00000100523	53510686	53620000	ENSP00000378970	DDHD1	-1	DDHD1_HUMAN	-	-	3'_UTR	rs72688253	0.02041	-	lod=489:631	-	-	-	het	16
13	14	53510984	T	C	ENST00000323669	ENSG00000100523	53510686	53620000	ENSP00000327104	DDHD1	-1	DDHD1_HUMAN	-	-	3'_UTR	rs116995768	0.0066	-	-	-	-	-	het	3
14	14	53510984	T	C	ENST00000357758	ENSG00000100523	53510686	53620000	ENSP00000350401	DDHD1	-1	DDHD1_HUMAN	-	-	3'_UTR	rs116995768	0.0066	-	-	-	-	-	het	3
15	14	53510984	T	C	ENST00000395606	ENSG00000100523	53510686	53620000	ENSP00000378970	DDHD1	-1	DDHD1_HUMAN	-	-	3'_UTR	rs116995768	0.0066	-	-	-	-	-	het	3
16	14	53511126	A	G	ENST00000323669	ENSG00000100523	53510686	53620000	ENSP00000327104	DDHD1	-1	DDHD1_HUMAN	-	-	3'_UTR	rs78819079	0.0033	-	-	-	-	-	het	3
17	14	53511126	A	G	ENST00000357758	ENSG00000100523	53510686	53620000	ENSP00000350401	DDHD1	-1	DDHD1_HUMAN	-	-	3'_UTR	rs78819079	0.0033	-	-	-	-	-	het	3
18	14	53511126	A	G	ENST00000395606	ENSG00000100523	53510686	53620000	ENSP00000378970	DDHD1	-1	DDHD1_HUMAN	-	-	3'_UTR	rs78819079	0.0033	-	-	-	-	-	het	3
19	14	53511169	G	T	ENST00000323669	ENSG00000100523	53510686	53620000	ENSP00000327104	DDHD1	-1	DDHD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	14	53511169	G	T	ENST00000357758	ENSG00000100523	53510686	53620000	ENSP00000350401	DDHD1	-1	DDHD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding DDHD1 14:53510686..53620000 region Gbrowse