CDRT4

CMT1A duplicated region transcript 4

Basic information

Region (hg38): 17:15436014-15475728

Links

ENSG00000239704 ∙ NCBI:284040 ∙ ∙ HGNC:14383 ∙ Uniprot:Q8N9R6 ∙ 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 CDRT4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDRT4 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			8	2		10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	2	0

Variants in CDRT4

This is a list of pathogenic ClinVar variants found in the CDRT4 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-15437787-T-C		not specified	Uncertain significance (Aug 14, 2023)
17-15437804-A-G		not specified	Uncertain significance (Jul 06, 2021)
17-15437813-C-A		not specified	Uncertain significance (Feb 16, 2023)
17-15437813-C-T		not specified	Uncertain significance (Mar 03, 2022)
17-15437922-C-T		not specified	Likely benign (Jan 24, 2024)
17-15437942-G-T		not specified	Uncertain significance (Feb 15, 2023)
17-15438053-T-C		not specified	Uncertain significance (Mar 19, 2024)
17-15438143-G-A		not specified	Uncertain significance (Jan 04, 2022)
17-15438174-G-A		not specified	Uncertain significance (May 17, 2023)
17-15440223-T-C		not specified	Uncertain significance (Jan 16, 2024)
17-15440225-C-T		not specified	Likely benign (Jun 24, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CDRT4	protein_coding	protein_coding	ENST00000312177	2	67591

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0958	0.592	124573	0	1	124574	0.00000401

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0359	87	87.9	0.989	0.00000513	982
Missense in Polyphen		9	11.632	0.7737		139
Synonymous	-0.106	34	33.2	1.02	0.00000215	294
Loss of Function	0.0806	1	1.09	0.917	4.64e-8	12

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000887	0.00000887
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0732
• hipred: N
• hipred_score: 0.123
• ghis: 0.525

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.215

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cdrt4