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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 FGF23:

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
ENSG00000118972	FGF23	0	0	9	ENSG00000118972	ENST00000237837	ENSP00000237837	fibroblast growth factor 23 [Source:HGNC Symbol;Acc:3680]	12	4477393	4488894	-1	p13.32	4477393	4488894	FGF23	FGF23-001	HGNC Symbol	HGNC transcript name	1	44.69	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	8074	3680	FGF23	NM_020638	27519

MSeqDR Master Exome Data Set M1: 15 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	12	4477623	G	T	ENST00000237837	ENSG00000118972	4477393	4488894	ENSP00000237837	FGF23	-1	FGF23_HUMAN	-	-	3'_UTR	rs183802802	0.00199	-	lod=47:381	-	-	-	het	4
2	12	4477737	C	T	ENST00000237837	ENSG00000118972	4477393	4488894	ENSP00000237837	FGF23	-1	FGF23_HUMAN	-	-	3'_UTR	rs13312800	0.00192	-	-	-	-	-	het	4
3	12	4478080	T	A	ENST00000237837	ENSG00000118972	4477393	4488894	ENSP00000237837	FGF23	-1	FGF23_HUMAN	-	-	3'_UTR	rs11063112	0.25275	-	-	-	-	-	hom	11
4	12	4478080	T	A	ENST00000237837	ENSG00000118972	4477393	4488894	ENSP00000237837	FGF23	-1	FGF23_HUMAN	-	-	3'_UTR	rs11063112	0.25275	-	-	-	-	-	het	88
5	12	4479105	C	A	ENST00000237837	ENSG00000118972	4477393	4488894	ENSP00000237837	FGF23	-1	FGF23_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	12	4479466	G	A	ENST00000237837	ENSG00000118972	4477393	4488894	ENSP00000237837	FGF23	-1	FGF23_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	12	4479480	G	C	ENST00000237837	ENSG00000118972	4477393	4488894	ENSP00000237837	FGF23	-1	FGF23_HUMAN	-	-	3'_UTR	rs71534281	-	C=15/G=8585;C=0/G=4406;C=15/G=12991	-	-	-	-	het	2
8	12	4479486	A	C	ENST00000237837	ENSG00000118972	4477393	4488894	ENSP00000237837	FGF23	-1	FGF23_HUMAN	-	-	3'_UTR	rs13312794	0.0272	C=3/A=8597;C=71/A=4335;C=74/A=12932	-	-	-	-	hom	1
9	12	4479486	A	C	ENST00000237837	ENSG00000118972	4477393	4488894	ENSP00000237837	FGF23	-1	FGF23_HUMAN	-	-	3'_UTR	rs13312794	0.0272	C=3/A=8597;C=71/A=4335;C=74/A=12932	-	-	-	-	het	10
10	12	4479491	G	C	ENST00000237837	ENSG00000118972	4477393	4488894	ENSP00000237837	FGF23	-1	FGF23_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	12	4479545	G	A	ENST00000237837	ENSG00000118972	4477393	4488894	ENSP00000237837	FGF23	-1	FGF23_HUMAN	c.720C>T	p.G240G	syn	rs201132379	-	-	-	-	-	-	het	4
12	12	4479549	G	A	ENST00000237837	ENSG00000118972	4477393	4488894	ENSP00000237837	FGF23	-1	FGF23_HUMAN	c.716C>T	p.T239M	non-syn	rs7955866	0.1927	A=973/G=7627;A=397/G=4009;A=1370/G=11636	-	TOLERATED	B	-	het	186
13	12	4479549	G	A	ENST00000237837	ENSG00000118972	4477393	4488894	ENSP00000237837	FGF23	-1	FGF23_HUMAN	c.716C>T	p.T239M	non-syn	rs7955866	0.1927	A=973/G=7627;A=397/G=4009;A=1370/G=11636	-	TOLERATED	B	-	hom	11
14	12	4479710	C	G	ENST00000237837	ENSG00000118972	4477393	4488894	ENSP00000237837	FGF23	-1	FGF23_HUMAN	c.555G>C	p.S185S	syn	rs115283398	0.0119	G=0/C=8600;G=47/C=4353;G=47/C=12953	-	-	-	-	het	2
15	12	4488661	G	A	ENST00000237837	ENSG00000118972	4477393	4488894	ENSP00000237837	FGF23	-1	FGF23_HUMAN	c.88C>T	p.P30S	non-syn	NA	-	-	lod=25:313	DAMAGING	D	-	het	2

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Transcripts and variants in the surrounding FGF23 12:4477393..4488894 region Gbrowse