Entrez Gene ID	27133
Official Gene Symbol	KCNH5 (GeneCards)
Full name	potassium voltage-gated channel subfamily H member 5
Location	14q23.2
Other ids	Vega : OTTHUMG00000029041 MIM : 605716 HGNC : HGNC:6254 Ensembl : ENSG00000140015
Other names	EAG2, hEAG2, H-EAG2, Kv10.2
Summary	This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Variants

Found 35 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
18007	27133	KCNH5	14	63189440	63189440	Asymptomatic	HiSeq X Ten
18052	27133	KCNH5	14	63563581	63563581	Asymptomatic	HiSeq X Ten HiSeq 2000
18581	27133	KCNH5	14	63539310	63539310	Cockayne syndrome	HiSeq X Ten HiSeq 2000
18633	27133	KCNH5	14	63280007	63280007	Cockayne syndrome	HiSeq X Ten HiSeq 2000
23759	27133	KCNH5	14	63188335	63188335	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
23760	27133	KCNH5	14	63188436	63188436	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
30957	27133	KCNH5	14	63316538	63316538	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
30958	27133	KCNH5	14	63468055	63468055	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
30959	27133	KCNH5	14	63316538	63316538	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
30960	27133	KCNH5	14	63174801	63174801	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
30961	27133	KCNH5	14	63174801	63174801	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
30962	27133	KCNH5	14	63453854	63453854	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
30963	27133	KCNH5	14	63269167	63269167	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
30964	27133	KCNH5	14	63447880	63447880	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
30965	27133	KCNH5	14	63174328	63174328	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
30966	27133	KCNH5	14	63417078	63417078	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
32251	27133	KCNH5	14	63246516	63246516	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
32252	27133	KCNH5	14	63447722	63447722	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
32253	27133	KCNH5	14	63174255	63174255	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
32254	27133	KCNH5	14	63453813	63453813	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
32255	27133	KCNH5	14	63453871	63453871	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
32256	27133	KCNH5	14	63174637	63174637	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
32257	27133	KCNH5	14	63447854	63447854	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
32258	27133	KCNH5	14	63174906	63174906	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
32259	27133	KCNH5	14	63174906	63174906	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
32260	27133	KCNH5	14	63453887	63453887	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
32261	27133	KCNH5	14	63447959	63447959	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
32262	27133	KCNH5	14	63447936	63447936	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
32263	27133	KCNH5	14	63447959	63447959	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
32264	27133	KCNH5	14	63174947	63174947	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
32265	27133	KCNH5	14	63416882	63416882	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
32266	27133	KCNH5	14	63175137	63175137	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
33563	27133	KCNH5	14	63316432	63316432	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
33564	27133	KCNH5	14	63316546	63316546	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel
33565	27133	KCNH5	14	63175034	63175034	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NGS gene panel

KCNH5 (Entrez ID: 27133)

Variants