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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 FANCA:

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
ENSG00000187741	FANCA	0	0	74	ENSG00000187741	ENST00000561667		Fanconi anemia, complementation group A [Source:HGNC Symbol;Acc:3582]	16	89803957	89883065	-1	q24.3	89836323	89836991	FANCA	FANCA-018	HGNC Symbol	HGNC transcript name	32	50.46	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	2175	3582	FANCA		27514

MSeqDR Master Exome Data Set M1: 942 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	16	89804023	C	T	ENST00000389301	ENSG00000187741	89803957	89883065	ENSP00000373952	FANCA	-1	FANCA_HUMAN	-	-	3'_UTR	rs16966023	0.0725	-	-	-	-	-	het	6
2	16	89804023	C	T	ENST00000389301	ENSG00000187741	89803957	89883065	ENSP00000373952	FANCA	-1	FANCA_HUMAN	-	-	3'_UTR	rs16966023	0.0725	-	-	-	-	-	hom	1
3	16	89804166	G	A	ENST00000389301	ENSG00000187741	89803957	89883065	ENSP00000373952	FANCA	-1	FANCA_HUMAN	-	-	3'_UTR	rs201316239	-	A=10/G=8590;A=1/G=4395;A=11/G=12985	-	-	-	-	het	4
4	16	89804329	G	-A	ENST00000389301	ENSG00000187741	89803957	89883065	ENSP00000373952	FANCA	-1	FANCA_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
5	16	89804335	C	-T	ENST00000389301	ENSG00000187741	89803957	89883065	ENSP00000373952	FANCA	-1	FANCA_HUMAN	-	-	3'_UTR	rs17233826	-	-	-	-	-	-	het	508
6	16	89804335	C	-T	ENST00000389301	ENSG00000187741	89803957	89883065	ENSP00000373952	FANCA	-1	FANCA_HUMAN	-	-	3'_UTR	rs17233826	-	-	-	-	-	-	hom	153
7	16	89804336	T	C	ENST00000389301	ENSG00000187741	89803957	89883065	ENSP00000373952	FANCA	-1	FANCA_HUMAN	-	-	3'_UTR	rs62704561	-	-	-	-	-	-	het	1
8	16	89804336	T	-C	ENST00000389301	ENSG00000187741	89803957	89883065	ENSP00000373952	FANCA	-1	FANCA_HUMAN	-	-	3'_UTR	rs66471129	-	-	-	-	-	-	het	24
9	16	89804336	T	-C	ENST00000389301	ENSG00000187741	89803957	89883065	ENSP00000373952	FANCA	-1	FANCA_HUMAN	-	-	3'_UTR	rs66471129	-	-	-	-	-	-	hom	1
10	16	89804355	G	A	ENST00000389301	ENSG00000187741	89803957	89883065	ENSP00000373952	FANCA	-1	FANCA_HUMAN	-	-	3'_UTR	rs17227438	0.0021	A=19/G=8581;A=0/G=4396;A=19/G=12977	-	-	-	-	het	16
11	16	89804379	C	G	ENST00000389301	ENSG00000187741	89803957	89883065	ENSP00000373952	FANCA	-1	FANCA_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
12	16	89804457	A	G	ENST00000389301	ENSG00000187741	89803957	89883065	ENSP00000373952	FANCA	-1	FANCA_HUMAN	-	-	3'_UTR	NA	-	-	lod=39:361	DAMAGING	B	-	hom	1
13	16	89804457	A	G	ENST00000389301	ENSG00000187741	89803957	89883065	ENSP00000373952	FANCA	-1	FANCA_HUMAN	-	-	3'_UTR	NA	-	-	lod=39:361	DAMAGING	B	-	het	2
14	16	89804624	G	C	ENST00000389301	ENSG00000187741	89803957	89883065	ENSP00000373952	FANCA	-1	FANCA_HUMAN	-	-	3'_UTR	rs17227424	0.0742	C=350/G=8238;C=33/G=4359;C=383/G=12597	-	DAMAGING	P	-	het	44
15	16	89804624	G	C	ENST00000389301	ENSG00000187741	89803957	89883065	ENSP00000373952	FANCA	-1	FANCA_HUMAN	-	-	3'_UTR	rs17227424	0.0742	C=350/G=8238;C=33/G=4359;C=383/G=12597	-	DAMAGING	P	-	hom	2
16	16	89804722	C	T	ENST00000389301	ENSG00000187741	89803957	89883065	ENSP00000373952	FANCA	-1	FANCA_HUMAN	-	-	3'_UTR	rs17227417	0.0508	-	-	-	-	-	het	16
17	16	89804722	C	T	ENST00000389301	ENSG00000187741	89803957	89883065	ENSP00000373952	FANCA	-1	FANCA_HUMAN	-	-	3'_UTR	rs17227417	0.0508	-	-	-	-	-	hom	1
18	16	89804723	G	A	ENST00000389301	ENSG00000187741	89803957	89883065	ENSP00000373952	FANCA	-1	FANCA_HUMAN	-	-	3'_UTR	rs17233804	-	-	-	-	-	-	het	1
19	16	89804855	C	T	ENST00000389301	ENSG00000187741	89803957	89883065	ENSP00000373952	FANCA	-1	FANCA_HUMAN	-	-	3'_UTR	rs1230	0.815	-	-	-	-	-	hom	130
20	16	89804855	C	T	ENST00000389301	ENSG00000187741	89803957	89883065	ENSP00000373952	FANCA	-1	FANCA_HUMAN	-	-	3'_UTR	rs1230	0.815	-	-	-	-	-	het	330

** 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 FANCA 16:89803957..89883065 region Gbrowse