NATD1

N-acetyltransferase domain containing 1

Basic information

Region (hg38): 17:21238870-21253410

Previous symbols: [ "C17orf103" ]

Links

ENSG00000274180

∙ NCBI:256302 ∙ ∙ HGNC:30770 ∙ Uniprot:Q8N6N6 ∙ 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 NATD1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NATD1 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			2 clinvar			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	0

Variants in NATD1

This is a list of pathogenic ClinVar variants found in the NATD1 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-21243357-T-C		not specified	Uncertain significance (Apr 18, 2023)	2509301
17-21244209-G-A		not specified	Uncertain significance (Jan 18, 2022)	2231146

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

pHI
hipred: N
hipred_score: 0.267
ghis

Mouse Genome Informatics

Gene name: Natd1
Phenotype: hematopoietic system phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan);

Gene ontology

Biological process: protein acetylation
Cellular component
Molecular function: protein binding;N-acyltransferase activity