CD300LD-AS1

CD300LD antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 17:74584679-74626003

Previous symbols: [ "C17orf77" ]

Links

ENSG00000182352 ∙ NCBI:146723 ∙ ∙ HGNC:26480 ∙ Uniprot:Q96MU5 ∙ 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 CD300LD-AS1 gene.

• Inborn genetic diseases (3 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD300LD-AS1 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			3	1		4
Total	0	0	3	1	0

Variants in CD300LD-AS1

This is a list of pathogenic ClinVar variants found in the CD300LD-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-74588534-T-C		not specified	Uncertain significance (Jun 17, 2024)
17-74588605-C-T			Likely benign (Sep 01, 2022)
17-74588610-T-C		not specified	Uncertain significance (Mar 20, 2023)
17-74588662-C-A		not specified	Uncertain significance (Feb 28, 2025)
17-74588721-C-T		not specified	Uncertain significance (Dec 22, 2024)
17-74588723-G-C		not specified	Uncertain significance (Jan 14, 2025)
17-74588724-C-T		not specified	Uncertain significance (Oct 17, 2023)
17-74588735-C-T		not specified	Uncertain significance (Feb 13, 2025)
17-74588793-C-T		not specified	Uncertain significance (Mar 13, 2023)
17-74588835-C-T		not specified	Likely benign (Jan 16, 2025)
17-74592166-G-A		not specified	Uncertain significance (Dec 04, 2024)
17-74592213-C-T		not specified	Uncertain significance (Oct 12, 2021)
17-74612742-C-T		not specified	Uncertain significance (Oct 30, 2023)
17-74612768-C-T		not specified	Uncertain significance (Feb 07, 2025)
17-74613944-C-T		not specified	Uncertain significance (Nov 25, 2024)
17-74613972-G-T		not specified	Uncertain significance (Apr 27, 2023)
17-74613995-G-A		not specified	Uncertain significance (Feb 25, 2025)
17-74617127-C-T		not specified	Uncertain significance (Aug 10, 2021)
17-74617280-C-T		not specified	Uncertain significance (Oct 12, 2024)
17-74617339-G-A		not specified	Uncertain significance (Jan 23, 2025)
17-74617354-C-A		not specified	Uncertain significance (Apr 25, 2022)
17-74617358-A-G		not specified	Uncertain significance (Jul 05, 2023)
17-74617391-C-T		not specified	Uncertain significance (Dec 09, 2023)
17-74617401-C-G		not specified	Uncertain significance (Jan 31, 2025)
17-74617423-G-A		not specified	Likely benign (Mar 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CD300LD-AS1	protein_coding	protein_coding	ENST00000392620	1	9531

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.142	135	130	1.03	0.00000650	1548
Missense in Polyphen		12	10.661	1.1256		104
Synonymous	0.516	53	58.0	0.914	0.00000334	518
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.743
• rvis_EVS: 1.2
• rvis_percentile_EVS: 92.92

Haploinsufficiency Scores

• pHI: 0.0801
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N

Gene Damage Prediction

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

Gene ontology

• Cellular component: extracellular region