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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 FANCC:

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
ENSG00000158169	FANCC	0	0	66	ENSG00000158169	ENST00000289081	ENSP00000289081	Fanconi anemia, complementation group C [Source:HGNC Symbol;Acc:3584]	9	97861336	98079991	-1	q22.32	97861336	98079984	FANCC	FANCC-001	HGNC Symbol	HGNC transcript name	10	41.38	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2176	3584	FANCC	NM_000136	27518

MSeqDR Master Exome Data Set M1: 143 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	9	97861437	A	G	ENST00000289081	ENSG00000158169	97861336	98079991	ENSP00000289081	FANCC	-1	FANCC_HUMAN	-	-	3'_UTR	rs9673	0.04748	-	-	-	-	-	het	35
2	9	97861437	A	G	ENST00000289081	ENSG00000158169	97861336	98079991	ENSP00000289081	FANCC	-1	FANCC_HUMAN	-	-	3'_UTR	rs9673	0.04748	-	-	-	-	-	hom	2
3	9	97861437	A	G	ENST00000375305	ENSG00000158169	97861336	98079991	ENSP00000364454	FANCC	-1	FANCC_HUMAN	-	-	3'_UTR	rs9673	0.04748	-	-	-	-	-	het	35
4	9	97861437	A	G	ENST00000375305	ENSG00000158169	97861336	98079991	ENSP00000364454	FANCC	-1	FANCC_HUMAN	-	-	3'_UTR	rs9673	0.04748	-	-	-	-	-	hom	2
5	9	97861465	C	T	ENST00000289081	ENSG00000158169	97861336	98079991	ENSP00000289081	FANCC	-1	FANCC_HUMAN	-	-	3'_UTR	rs56199232	-	-	-	-	-	-	het	2
6	9	97861465	C	T	ENST00000375305	ENSG00000158169	97861336	98079991	ENSP00000364454	FANCC	-1	FANCC_HUMAN	-	-	3'_UTR	rs56199232	-	-	-	-	-	-	het	2
7	9	97861599	C	A	ENST00000289081	ENSG00000158169	97861336	98079991	ENSP00000289081	FANCC	-1	FANCC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
8	9	97861599	C	A	ENST00000375305	ENSG00000158169	97861336	98079991	ENSP00000364454	FANCC	-1	FANCC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
9	9	97861610	G	A	ENST00000289081	ENSG00000158169	97861336	98079991	ENSP00000289081	FANCC	-1	FANCC_HUMAN	-	-	3'_UTR	rs188879574	0.0025	-	-	-	-	-	het	1
10	9	97861610	G	A	ENST00000375305	ENSG00000158169	97861336	98079991	ENSP00000364454	FANCC	-1	FANCC_HUMAN	-	-	3'_UTR	rs188879574	0.0025	-	-	-	-	-	het	1
11	9	97861661	C	T	ENST00000289081	ENSG00000158169	97861336	98079991	ENSP00000289081	FANCC	-1	FANCC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	9	97861661	C	T	ENST00000375305	ENSG00000158169	97861336	98079991	ENSP00000364454	FANCC	-1	FANCC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	9	97861690	C	T	ENST00000289081	ENSG00000158169	97861336	98079991	ENSP00000289081	FANCC	-1	FANCC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
14	9	97861690	C	T	ENST00000375305	ENSG00000158169	97861336	98079991	ENSP00000364454	FANCC	-1	FANCC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
15	9	97861797	G	C	ENST00000289081	ENSG00000158169	97861336	98079991	ENSP00000289081	FANCC	-1	FANCC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	9	97861797	G	C	ENST00000375305	ENSG00000158169	97861336	98079991	ENSP00000364454	FANCC	-1	FANCC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	9	97861904	G	T	ENST00000289081	ENSG00000158169	97861336	98079991	ENSP00000289081	FANCC	-1	FANCC_HUMAN	-	-	3'_UTR	rs4647559	0.0621	-	-	-	-	-	het	1
18	9	97861904	G	T	ENST00000375305	ENSG00000158169	97861336	98079991	ENSP00000364454	FANCC	-1	FANCC_HUMAN	-	-	3'_UTR	rs4647559	0.0621	-	-	-	-	-	het	1
19	9	97861987	C	T	ENST00000289081	ENSG00000158169	97861336	98079991	ENSP00000289081	FANCC	-1	FANCC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	9	97861987	C	T	ENST00000375305	ENSG00000158169	97861336	98079991	ENSP00000364454	FANCC	-1	FANCC_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding FANCC 9:97861336..98079991 region Gbrowse