CADM3-AS1

CADM3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:159170320-159211455

Links

ENSG00000225670 ∙ NCBI:100131825 ∙ ∙ HGNC:40812 ∙ ∙ ∙ 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 CADM3-AS1 gene.

• Inborn genetic diseases (15 variants)
• Charcot-Marie-Tooth disease, axonal, type 2FF (2 variants)
• DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE (2 variants)
• Duffy Blood group system (1 variants)
• not specified (1 variants)
• DUFFY BLOOD GROUP SYSTEM, FYA/FYB POLYMORPHISM (1 variants)
• not provided (1 variants)
• DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE (1 variants)
• Resistance to Plasmodium vivax infection (1 variants)
• White blood cell count quantitative trait locus 1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CADM3-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)			1			1
splice region						0
non coding	2		15	1	2	20
Total	2	0	16	1	2

Highest pathogenic variant AF is 0.00993

Variants in CADM3-AS1

This is a list of pathogenic ClinVar variants found in the CADM3-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
1-159171815-G-A		Inborn genetic diseases	Uncertain significance (Dec 26, 2023)
1-159171838-A-C		Inborn genetic diseases	Uncertain significance (Feb 28, 2024)
1-159191945-C-T		Inborn genetic diseases	Uncertain significance (Feb 27, 2023)
1-159191947-T-C		Inborn genetic diseases	Uncertain significance (Dec 28, 2023)
1-159191983-G-A		Inborn genetic diseases	Uncertain significance (Apr 13, 2022)
1-159192007-G-A		Inborn genetic diseases	Uncertain significance (Jan 03, 2024)
1-159192042-T-G			Likely benign (Feb 01, 2023)
1-159192608-C-T		Inborn genetic diseases	Uncertain significance (Dec 03, 2021)
1-159192614-C-T		Inborn genetic diseases	Uncertain significance (Feb 27, 2023)
1-159192718-G-A		Inborn genetic diseases	Uncertain significance (Jan 02, 2024)
1-159192730-G-C		Malignant tumor of prostate	Uncertain significance (-)
1-159193421-AG-A		Charcot-Marie-Tooth disease, axonal, type 2FF	Uncertain significance (Oct 26, 2022)
1-159193453-A-G		Charcot-Marie-Tooth disease, axonal, type 2FF	Likely pathogenic (Mar 29, 2024)
1-159193458-T-C		Inborn genetic diseases	Uncertain significance (May 18, 2023)
1-159193467-C-T		Inborn genetic diseases	Uncertain significance (May 17, 2023)
1-159193507-G-A		Inborn genetic diseases	Uncertain significance (Jun 06, 2023)
1-159193872-G-A		Inborn genetic diseases	Uncertain significance (Sep 01, 2021)
1-159193944-A-G		Inborn genetic diseases	Uncertain significance (Jul 05, 2023)
1-159193968-A-G		Inborn genetic diseases	Uncertain significance (Dec 17, 2023)
1-159193971-G-A		Inborn genetic diseases	Uncertain significance (Jun 18, 2021)
1-159196392-C-A		Inborn genetic diseases	Uncertain significance (Jun 27, 2022)
1-159196401-T-A		Inborn genetic diseases	Uncertain significance (Feb 28, 2023)
1-159196406-G-A		Inborn genetic diseases	Uncertain significance (Sep 25, 2023)
1-159199789-G-A		Inborn genetic diseases	Uncertain significance (Feb 28, 2023)
1-159199798-G-T		Charcot-Marie-Tooth disease, axonal, type 2FF	Uncertain significance (Apr 10, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP