GRHL2-DT

GRHL2 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 8:101460005-101493338

Links

ENSG00000254024 ∙ NCBI:107986962 ∙ ∙ HGNC:55466 ∙ ∙ ∙ 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 GRHL2-DT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GRHL2-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						0
Total	0	0	0	0	0

Variants in GRHL2-DT

This is a list of pathogenic ClinVar variants found in the GRHL2-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
8-101492283-G-A			Benign (Nov 12, 2018)
8-101492313-C-T			Benign (Nov 12, 2018)
8-101492563-C-T			Likely benign (Feb 16, 2019)
8-101492746-C-G		not specified • Corneal dystrophy, posterior polymorphous, 4 • Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome • Autosomal dominant nonsyndromic hearing loss 28	Benign (Aug 10, 2021)
8-101492747-G-C		not specified	Likely benign (Feb 16, 2018)
8-101492766-A-T		not specified	Uncertain significance (Dec 01, 2023)
8-101492921-GA-G		Corneal dystrophy • Corneal dystrophy, posterior polymorphous, 4	Pathogenic/Likely pathogenic (Jan 12, 2022)
8-101493044-CT-C		Corneal dystrophy	Likely pathogenic (Feb 02, 2018)
8-101493333-G-C			Likely benign (Dec 15, 2023)
8-101493333-G-T		Corneal dystrophy • Corneal dystrophy, posterior polymorphous, 4	Pathogenic/Likely pathogenic (Jan 12, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP