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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 FGFR2:

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
ENSG00000066468	FGFR2	0	0	51	ENSG00000066468	ENST00000369056	ENSP00000358052	fibroblast growth factor receptor 2 [Source:HGNC Symbol;Acc:3689]	10	123237848	123357972	-1	q26.13	123241370	123353355	FGFR2	FGFR2-006	HGNC Symbol	HGNC transcript name	22	45.41	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2263	3689	FGFR2	NM_001144913	27525

MSeqDR Master Exome Data Set M1: 776 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	10	123237868	A	-TTTAT	ENST00000357555	ENSG00000066468	123237848	123357972	ENSP00000350166	FGFR2	-1	FGFR2_HUMAN	-	-	3'_UTR	NA	-	-	lod=575:648	-	-	-	het	3
2	10	123237868	A	-TTTAT	ENST00000358487	ENSG00000066468	123237848	123357972	ENSP00000351276	FGFR2	-1	FGFR2_HUMAN	-	-	3'_UTR	NA	-	-	lod=575:648	-	-	-	het	3
3	10	123237868	A	-TTTAT	ENST00000369061	ENSG00000066468	123237848	123357972	ENSP00000358057	FGFR2	-1	FGFR2_HUMAN	-	-	3'_UTR	NA	-	-	lod=575:648	-	-	-	het	3
4	10	123237941	T	C	ENST00000357555	ENSG00000066468	123237848	123357972	ENSP00000350166	FGFR2	-1	FGFR2_HUMAN	-	-	3'_UTR	NA	-	-	lod=575:648	-	-	-	het	2
5	10	123237941	T	C	ENST00000358487	ENSG00000066468	123237848	123357972	ENSP00000351276	FGFR2	-1	FGFR2_HUMAN	-	-	3'_UTR	NA	-	-	lod=575:648	-	-	-	het	2
6	10	123237941	T	C	ENST00000369061	ENSG00000066468	123237848	123357972	ENSP00000358057	FGFR2	-1	FGFR2_HUMAN	-	-	3'_UTR	NA	-	-	lod=575:648	-	-	-	het	2
7	10	123237941	T	C	ENST00000478859	ENSG00000066468	123237848	123357972	ENSP00000474011	FGFR2	-1	-	-	-	3'_UTR	NA	-	-	lod=575:648	-	-	-	het	2
8	10	123238052	T	C	ENST00000357555	ENSG00000066468	123237848	123357972	ENSP00000350166	FGFR2	-1	FGFR2_HUMAN	-	-	3'_UTR	rs3135830	0.01404	-	lod=16:265	-	-	-	het	19
9	10	123238052	T	C	ENST00000357555	ENSG00000066468	123237848	123357972	ENSP00000350166	FGFR2	-1	FGFR2_HUMAN	-	-	3'_UTR	rs3135830	0.01404	-	lod=16:265	-	-	-	hom	1
10	10	123238052	T	C	ENST00000358487	ENSG00000066468	123237848	123357972	ENSP00000351276	FGFR2	-1	FGFR2_HUMAN	-	-	3'_UTR	rs3135830	0.01404	-	lod=16:265	-	-	-	het	19
11	10	123238052	T	C	ENST00000358487	ENSG00000066468	123237848	123357972	ENSP00000351276	FGFR2	-1	FGFR2_HUMAN	-	-	3'_UTR	rs3135830	0.01404	-	lod=16:265	-	-	-	hom	1
12	10	123238052	T	C	ENST00000369061	ENSG00000066468	123237848	123357972	ENSP00000358057	FGFR2	-1	FGFR2_HUMAN	-	-	3'_UTR	rs3135830	0.01404	-	lod=16:265	-	-	-	het	19
13	10	123238052	T	C	ENST00000369061	ENSG00000066468	123237848	123357972	ENSP00000358057	FGFR2	-1	FGFR2_HUMAN	-	-	3'_UTR	rs3135830	0.01404	-	lod=16:265	-	-	-	hom	1
14	10	123238052	T	C	ENST00000478859	ENSG00000066468	123237848	123357972	ENSP00000474011	FGFR2	-1	-	-	-	3'_UTR	rs3135830	0.01404	-	lod=16:265	-	-	-	het	19
15	10	123238052	T	C	ENST00000478859	ENSG00000066468	123237848	123357972	ENSP00000474011	FGFR2	-1	-	-	-	3'_UTR	rs3135830	0.01404	-	lod=16:265	-	-	-	hom	1
16	10	123238070	G	A	ENST00000357555	ENSG00000066468	123237848	123357972	ENSP00000350166	FGFR2	-1	FGFR2_HUMAN	-	-	3'_UTR	rs71640261	0.00184	-	-	-	-	-	het	4
17	10	123238070	G	A	ENST00000358487	ENSG00000066468	123237848	123357972	ENSP00000351276	FGFR2	-1	FGFR2_HUMAN	-	-	3'_UTR	rs71640261	0.00184	-	-	-	-	-	het	4
18	10	123238070	G	A	ENST00000369061	ENSG00000066468	123237848	123357972	ENSP00000358057	FGFR2	-1	FGFR2_HUMAN	-	-	3'_UTR	rs71640261	0.00184	-	-	-	-	-	het	4
19	10	123238070	G	A	ENST00000478859	ENSG00000066468	123237848	123357972	ENSP00000474011	FGFR2	-1	-	-	-	3'_UTR	rs71640261	0.00184	-	-	-	-	-	het	4
20	10	123238354	A	G	ENST00000357555	ENSG00000066468	123237848	123357972	ENSP00000350166	FGFR2	-1	FGFR2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding FGFR2 10:123237848..123357972 region Gbrowse