KCNH7

potassium voltage-gated channel subfamily H member 7, the group of PAS domain containing|Potassium voltage-gated channels

Basic information

Region (hg38): 2:162371406-162838767

Links

ENSG00000184611 ∙ NCBI:90134 ∙ OMIM:608169 ∙ HGNC:18863 ∙ Uniprot:Q9NS40 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KCNH7 gene.

• Inborn genetic diseases (23 variants)
• not provided (5 variants)
• KCNH7-related condition (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNH7 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	2	4
missense			25	1		26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	3	2

Variants in KCNH7

This is a list of pathogenic ClinVar variants found in the KCNH7 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-162371843-G-T		not specified	Uncertain significance (Dec 15, 2023)
2-162371933-C-T		not specified	Uncertain significance (Oct 26, 2022)
2-162372046-G-A		not specified	Uncertain significance (Mar 07, 2023)
2-162373516-G-A		not specified	Uncertain significance (Nov 17, 2023)
2-162373544-T-C		not specified	Likely benign (Jan 17, 2024)
2-162379935-A-C		not specified	Uncertain significance (Jan 04, 2022)
2-162379941-C-T		not specified	Uncertain significance (Feb 03, 2022)
2-162379964-G-C		KCNH7-related disorder	Uncertain significance (Feb 12, 2023)
2-162379994-C-T		not specified	Uncertain significance (Nov 14, 2023)
2-162384737-C-G		KCNH7-related disorder	Likely benign (Oct 28, 2019)
2-162384765-G-T		not specified	Uncertain significance (Dec 22, 2023)
2-162384777-C-G		KCNH7-related disorder	Benign (Dec 23, 2019)
2-162384809-C-T		KCNH7-related disorder	Likely benign (Oct 28, 2019)
2-162384838-T-C		not specified	Uncertain significance (Jan 26, 2023)
2-162394459-C-T		KCNH7-related disorder	Benign (Jan 20, 2020)
2-162394472-C-T		not specified	Uncertain significance (Jan 02, 2024)
2-162394477-G-A			Benign (Jan 08, 2018)
2-162394485-C-A		not specified	Uncertain significance (Sep 26, 2022)
2-162396747-C-T		Inborn genetic diseases	Uncertain significance (Feb 09, 2022)
2-162396754-G-T		not specified	Uncertain significance (Dec 16, 2022)
2-162396813-A-T		not specified	Uncertain significance (Oct 26, 2022)
2-162400302-T-C		not specified	Uncertain significance (Nov 15, 2021)
2-162400384-T-C		not specified	Uncertain significance (Jun 06, 2023)
2-162400394-A-T		not specified	Uncertain significance (Dec 19, 2022)
2-162423466-C-T		KCNH7-related disorder	Uncertain significance (Feb 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KCNH7	protein_coding	protein_coding	ENST00000332142	16	467324

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.282	0.718	125720	0	28	125748	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.04	426	643	0.663	0.0000332	7869
Missense in Polyphen		86	236.8	0.36317		2897
Synonymous	-1.15	263	240	1.09	0.0000132	2307
Loss of Function	5.35	13	56.4	0.231	0.00000343	652

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000203	0.000203
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.000139	0.000139
European (Non-Finnish)	0.0000815	0.0000791
Middle Eastern	0.0000544	0.0000544
South Asian	0.000142	0.000131
Other	0.000492	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Pore-forming (alpha) subunit of voltage-gated potassium channel. Channel properties may be modulated by cAMP and subunit assembly.
• Pathway: Neuronal System;Voltage gated Potassium channels;Potassium Channels (Consensus)

Recessive Scores

• pRec: 0.130

Intolerance Scores

• loftool: 0.0506
• rvis_EVS: -0.31
• rvis_percentile_EVS: 32.23

Haploinsufficiency Scores

• pHI: 0.441
• hipred: Y
• hipred_score: 0.765
• ghis: 0.404

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.409

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Kcnh7

Gene ontology

• Biological process: regulation of ion transmembrane transport;regulation of membrane potential;potassium ion transmembrane transport
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: voltage-gated potassium channel activity