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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 FGFR3:

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
ENSG00000068078	FGFR3	1	6	81	ENSG00000068078	ENST00000481110	ENSP00000420533	fibroblast growth factor receptor 3 [Source:HGNC Symbol;Acc:3690]	4	1795034	1810599	1	p16.3	1795034	1810592	FGFR3	FGFR3-006	HGNC Symbol	HGNC transcript name	9	65.82	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	2261	3690	FGFR3		27524

MSeqDR Master Exome Data Set M1: 600 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	4	1795124	A	G	ENST00000340107	ENSG00000068078	1795034	1810599	ENSP00000339824	FGFR3	1	FGFR3_HUMAN	-	-	5'_UTR	NA	-	-	-	DAMAGING	-	-	het	1
2	4	1795124	A	G	ENST00000412135	ENSG00000068078	1795034	1810599	ENSP00000412903	FGFR3	1	FGFR3_HUMAN	-	-	5'_UTR	NA	-	-	-	DAMAGING	-	-	het	1
3	4	1795124	A	G	ENST00000440486	ENSG00000068078	1795034	1810599	ENSP00000414914	FGFR3	1	FGFR3_HUMAN	-	-	5'_UTR	NA	-	-	-	DAMAGING	-	-	het	1
4	4	1795124	A	G	ENST00000481110	ENSG00000068078	1795034	1810599	ENSP00000420533	FGFR3	1	-	-	-	5'_UTR	NA	-	-	-	DAMAGING	-	-	het	1
5	4	1795557	T	C	ENST00000340107	ENSG00000068078	1795034	1810599	ENSP00000339824	FGFR3	1	FGFR3_HUMAN	-	-	-3bp 3'_splice_site	rs10023340	1	-	-	-	-	-	hom	221
6	4	1795557	T	C	ENST00000412135	ENSG00000068078	1795034	1810599	ENSP00000412903	FGFR3	1	FGFR3_HUMAN	-	-	-3bp 3'_splice_site	rs10023340	1	-	-	-	-	-	hom	221
7	4	1795557	T	C	ENST00000440486	ENSG00000068078	1795034	1810599	ENSP00000414914	FGFR3	1	FGFR3_HUMAN	-	-	-3bp 3'_splice_site	rs10023340	1	-	-	-	-	-	hom	221
8	4	1795557	T	C	ENST00000481110	ENSG00000068078	1795034	1810599	ENSP00000420533	FGFR3	1	-	-	-	-3bp 3'_splice_site	rs10023340	1	-	-	-	-	-	hom	221
9	4	1795748	G	C	ENST00000260795	ENSG00000068078	1795034	1810599	ENSP00000260795	FGFR3	1	FGFR3_HUMAN	c.87G>C	p.Q29H	non-syn	NA	-	-	-	DAMAGING	P	-	het	2
10	4	1795748	G	C	ENST00000340107	ENSG00000068078	1795034	1810599	ENSP00000339824	FGFR3	1	FGFR3_HUMAN	c.87G>C	p.Q29H	non-syn	NA	-	-	-	DAMAGING	P	-	het	2
11	4	1795748	G	C	ENST00000352904	ENSG00000068078	1795034	1810599	ENSP00000231803	FGFR3	1	FGFR3_HUMAN	c.87G>C	p.Q29H	non-syn	NA	-	-	-	DAMAGING	P	-	het	2
12	4	1795748	G	C	ENST00000412135	ENSG00000068078	1795034	1810599	ENSP00000412903	FGFR3	1	FGFR3_HUMAN	c.87G>C	p.Q29H	non-syn	NA	-	-	-	DAMAGING	P	-	het	2
13	4	1795748	G	C	ENST00000440486	ENSG00000068078	1795034	1810599	ENSP00000414914	FGFR3	1	FGFR3_HUMAN	c.87G>C	p.Q29H	non-syn	NA	-	-	-	DAMAGING	P	-	het	2
14	4	1795748	G	C	ENST00000481110	ENSG00000068078	1795034	1810599	ENSP00000420533	FGFR3	1	-	c.87G>C	p.Q29H	non-syn	NA	-	-	-	DAMAGING	P	-	het	2
15	4	1801016	T	C	ENST00000260795	ENSG00000068078	1795034	1810599	ENSP00000260795	FGFR3	1	FGFR3_HUMAN	c.145T>C	p.L49L	syn	NA	-	-	lod=114:475	-	-	-	het	1
16	4	1801016	T	C	ENST00000340107	ENSG00000068078	1795034	1810599	ENSP00000339824	FGFR3	1	FGFR3_HUMAN	c.145T>C	p.L49L	syn	NA	-	-	lod=114:475	-	-	-	het	1
17	4	1801016	T	C	ENST00000352904	ENSG00000068078	1795034	1810599	ENSP00000231803	FGFR3	1	FGFR3_HUMAN	c.145T>C	p.L49L	syn	NA	-	-	lod=114:475	-	-	-	het	1
18	4	1801016	T	C	ENST00000412135	ENSG00000068078	1795034	1810599	ENSP00000412903	FGFR3	1	FGFR3_HUMAN	c.145T>C	p.L49L	syn	NA	-	-	lod=114:475	-	-	-	het	1
19	4	1801016	T	C	ENST00000440486	ENSG00000068078	1795034	1810599	ENSP00000414914	FGFR3	1	FGFR3_HUMAN	c.145T>C	p.L49L	syn	NA	-	-	lod=114:475	-	-	-	het	1
20	4	1801016	T	C	ENST00000481110	ENSG00000068078	1795034	1810599	ENSP00000420533	FGFR3	1	-	c.145T>C	p.L49L	syn	NA	-	-	lod=114:475	-	-	-	het	1

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Transcripts and variants in the surrounding FGFR3 4:1795034..1810599 region Gbrowse