LRRC8C-DT

LRRC8C divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 1:89581291-89633008

Links

ENSG00000231999 ∙ NCBI:400761 ∙ ∙ HGNC:53731 ∙ ∙ ∙ 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 LRRC8C-DT gene.

• Inborn genetic diseases (15 variants)
• not provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LRRC8C-DT 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			14	2	5	21
Total	0	0	14	2	5

Variants in LRRC8C-DT

This is a list of pathogenic ClinVar variants found in the LRRC8C-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
1-89582767-C-T			Benign (Aug 20, 2018)
1-89582768-G-A		not specified	Uncertain significance (Sep 17, 2021)
1-89582841-A-G		not specified	Uncertain significance (Nov 07, 2023)
1-89582849-G-A		not specified	Uncertain significance (Apr 06, 2023)
1-89582868-T-C		not specified	Uncertain significance (Jul 20, 2021)
1-89582895-A-C		not specified	Uncertain significance (Aug 21, 2023)
1-89582925-G-A		not specified	Uncertain significance (Jan 29, 2024)
1-89582972-G-A		not specified	Uncertain significance (May 20, 2024)
1-89583197-C-T		not specified	Uncertain significance (Jan 23, 2024)
1-89583201-C-A		not specified	Uncertain significance (May 03, 2023)
1-89583223-G-A			Benign (Dec 04, 2017)
1-89583311-C-T		not specified	Uncertain significance (Apr 12, 2022)
1-89583378-G-A		not specified	Uncertain significance (Sep 22, 2023)
1-89583512-G-A			Benign (Jan 19, 2018)
1-89583515-T-G		not specified	Uncertain significance (Sep 01, 2021)
1-89583529-G-A			Benign (Aug 20, 2018)
1-89583765-T-A		not specified	Uncertain significance (Mar 16, 2024)
1-89583939-A-G		not specified	Likely benign (Dec 03, 2021)
1-89583941-G-A		not specified	Uncertain significance (Dec 16, 2023)
1-89583942-G-A		not specified	Uncertain significance (May 20, 2024)
1-89584023-C-T		not specified	Uncertain significance (Mar 24, 2023)
1-89584046-A-C		not specified	Uncertain significance (Dec 19, 2022)
1-89584056-G-A			Benign (Dec 20, 2017)
1-89584119-A-G		not specified	Uncertain significance (Oct 05, 2023)
1-89584223-C-G		not specified	Uncertain significance (Mar 07, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP