ATP6V0D1-DT

ATP6V0D1 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 16:67481314-67505977

Links

ENSG00000270049 ∙ NCBI:101927837 ∙ ∙ HGNC:55268 ∙ ∙ ∙ 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 ATP6V0D1-DT gene.

• Inborn genetic diseases (7 variants)
• not provided (3 variants)
• Leanness, inherited (1 variants)
• Obesity (1 variants)
• Obesity, late-onset (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ATP6V0D1-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			8		2	10
Total	0	0	8	0	2

Variants in ATP6V0D1-DT

This is a list of pathogenic ClinVar variants found in the ATP6V0D1-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
16-67482644-G-A		not specified	Uncertain significance (May 11, 2022)
16-67482658-A-T		not specified	Uncertain significance (Sep 27, 2021)
16-67482677-G-A		not specified	Uncertain significance (Sep 06, 2022)
16-67482702-G-C			Benign (May 31, 2017)
16-67482740-C-T		not specified	Uncertain significance (Dec 28, 2022)
16-67482749-C-T		not specified	Uncertain significance (Dec 22, 2023)
16-67482771-T-C		Obesity	Uncertain significance (Dec 10, 2021)
16-67483042-C-T		Obesity, late-onset • Leanness, inherited • Inherited obesity	Benign (Apr 04, 2024)
16-67483061-T-G		not specified	Uncertain significance (Nov 09, 2022)
16-67483099-G-A		not specified	Uncertain significance (May 24, 2023)
16-67483276-C-T			Benign (Jun 09, 2021)
16-67483286-A-C		not specified	Uncertain significance (May 12, 2024)
16-67483330-C-T		not specified	Uncertain significance (Jan 20, 2023)
16-67483385-G-A		not specified	Likely benign (Jan 19, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP