Favorite

Mutation Direct

Effortless mutation search and display tool

Search

Search criteria：

Gene: SLC26A7 & Disease: CH, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
828176	SLC26A7	c.1498C>T	p.Gln500Ter (p.Q500X)	NM_052832.4 M	SNV	LP	1 +	1
	SLC26A7	c.1498C>T	p.Gln500Ter (p.Q500X)	NM_001282356.2	SNV	LP	1 +	1
	SLC26A7	c.595C>T	p.Gln199Ter (p.Q199X)	NM_001282357.2	SNV	LP	1 +	1
	SLC26A7	c.1498C>T	p.Gln500Ter (p.Q500X)	NM_134266.2	SNV	LP	1 +	1

4 Results, 20 per Page

1

Comparison

Back to top