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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 ALDH6A1:

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
ENSG00000119711	ALDH6A1	1	0	0	ENSG00000119711	ENST00000553458	ENSP00000450436	aldehyde dehydrogenase 6 family, member A1 [Source:HGNC Symbol;Acc:7179]	14	74523553	74551196	-1	q24.3	74523553	74551196	ALDH6A1	ALDH6A1-001	HGNC Symbol	HGNC transcript name	7	43.41	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4329	7179	ALDH6A1	NM_001278593	27520

MSeqDR Master Exome Data Set M1: 221 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	74523714	T	C	ENST00000553458	ENSG00000119711	74523553	74551196	ENSP00000450436	ALDH6A1	-1	MMSA_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
2	14	74523756	A	G	ENST00000553458	ENSG00000119711	74523553	74551196	ENSP00000450436	ALDH6A1	-1	MMSA_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
3	14	74523869	A	G	ENST00000553458	ENSG00000119711	74523553	74551196	ENSP00000450436	ALDH6A1	-1	MMSA_HUMAN	-	-	3'_UTR	rs3742809	0.18091	G=1566/A=7034;G=733/A=3673;G=2299/A=10707	-	TOLERATED	B	-	het	300
4	14	74523869	A	G	ENST00000553458	ENSG00000119711	74523553	74551196	ENSP00000450436	ALDH6A1	-1	MMSA_HUMAN	-	-	3'_UTR	rs3742809	0.18091	G=1566/A=7034;G=733/A=3673;G=2299/A=10707	-	TOLERATED	B	-	hom	39
5	14	74523949	G	A	ENST00000553458	ENSG00000119711	74523553	74551196	ENSP00000450436	ALDH6A1	-1	MMSA_HUMAN	-	-	3'_UTR	rs3742808	0.2975	A=1616/G=6984;A=1483/G=2923;A=3099/G=9907	-	-	-	-	het	321
6	14	74523949	G	A	ENST00000553458	ENSG00000119711	74523553	74551196	ENSP00000450436	ALDH6A1	-1	MMSA_HUMAN	-	-	3'_UTR	rs3742808	0.2975	A=1616/G=6984;A=1483/G=2923;A=3099/G=9907	-	-	-	-	hom	43
7	14	74523998	T	C	ENST00000553458	ENSG00000119711	74523553	74551196	ENSP00000450436	ALDH6A1	-1	MMSA_HUMAN	-	-	3'_UTR	rs3742807	0.055	C=1/T=8599;C=0/T=4406;C=1/T=13005	-	-	-	-	het	3
8	14	74524034	C	T	ENST00000553458	ENSG00000119711	74523553	74551196	ENSP00000450436	ALDH6A1	-1	MMSA_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
9	14	74524128	C	T	ENST00000553458	ENSG00000119711	74523553	74551196	ENSP00000450436	ALDH6A1	-1	MMSA_HUMAN	-	-	3'_UTR	rs192803721	0.0041	-	-	-	-	-	het	1
10	14	74524193	G	C	ENST00000553458	ENSG00000119711	74523553	74551196	ENSP00000450436	ALDH6A1	-1	MMSA_HUMAN	-	-	3'_UTR	rs35227177	0.15237	-	-	-	-	-	het	176
11	14	74524193	G	C	ENST00000553458	ENSG00000119711	74523553	74551196	ENSP00000450436	ALDH6A1	-1	MMSA_HUMAN	-	-	3'_UTR	rs35227177	0.15237	-	-	-	-	-	hom	5
12	14	74524198	C	T	ENST00000553458	ENSG00000119711	74523553	74551196	ENSP00000450436	ALDH6A1	-1	MMSA_HUMAN	-	-	3'_UTR	rs116716441	0.0293	-	-	-	-	-	het	1
13	14	74524243	G	A	ENST00000553458	ENSG00000119711	74523553	74551196	ENSP00000450436	ALDH6A1	-1	MMSA_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
14	14	74524316	A	G	ENST00000553458	ENSG00000119711	74523553	74551196	ENSP00000450436	ALDH6A1	-1	MMSA_HUMAN	-	-	3'_UTR	rs184376464	0.0011	-	-	-	-	-	het	1
15	14	74524351	T	G	ENST00000553458	ENSG00000119711	74523553	74551196	ENSP00000450436	ALDH6A1	-1	MMSA_HUMAN	-	-	3'_UTR	rs114251476	0.1109	-	-	-	-	-	hom	1
16	14	74524351	T	G	ENST00000553458	ENSG00000119711	74523553	74551196	ENSP00000450436	ALDH6A1	-1	MMSA_HUMAN	-	-	3'_UTR	rs114251476	0.1109	-	-	-	-	-	het	28
17	14	74524381	T	C	ENST00000553458	ENSG00000119711	74523553	74551196	ENSP00000450436	ALDH6A1	-1	MMSA_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	14	74524486	G	A	ENST00000553458	ENSG00000119711	74523553	74551196	ENSP00000450436	ALDH6A1	-1	MMSA_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
19	14	74524529	A	G	ENST00000553458	ENSG00000119711	74523553	74551196	ENSP00000450436	ALDH6A1	-1	MMSA_HUMAN	-	-	3'_UTR	rs1536	0.1577	-	lod=19:284	-	-	-	het	58
20	14	74524529	A	G	ENST00000553458	ENSG00000119711	74523553	74551196	ENSP00000450436	ALDH6A1	-1	MMSA_HUMAN	-	-	3'_UTR	rs1536	0.1577	-	lod=19:284	-	-	-	hom	2

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding ALDH6A1 14:74523553..74551196 region Gbrowse