CIMAP1C

Basic information

Region (hg38): 15:75724041-75727688

Links

ENSG00000182950 ∙ ∙ ∙ HGNC:28735 ∙ ∙ ∙ 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 CIMAP1C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CIMAP1C 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						0
Total	0	0	0	0	0

Variants in CIMAP1C

This is a list of pathogenic ClinVar variants found in the CIMAP1C region.

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

Position	Type	Phenotype	Significance	ClinVar
15-75724240-C-A		not specified	Uncertain significance (Jun 22, 2023)
15-75724303-T-A		not specified	Uncertain significance (Sep 22, 2023)
15-75725132-G-A		not specified	Uncertain significance (Feb 09, 2023)
15-75725164-A-C		not specified	Uncertain significance (Feb 27, 2024)
15-75725185-G-A		not specified	Uncertain significance (Aug 08, 2023)
15-75725188-T-C		not specified	Uncertain significance (Dec 15, 2022)
15-75726070-A-G		not specified	Uncertain significance (Dec 13, 2023)
15-75726115-G-A		not specified	Uncertain significance (May 27, 2022)
15-75726138-C-A		not specified	Uncertain significance (Apr 21, 2022)
15-75727091-T-A		not specified	Uncertain significance (Aug 10, 2021)
15-75727113-C-T		not specified	Uncertain significance (Dec 03, 2024)
15-75727122-G-A		not specified	Uncertain significance (Mar 02, 2023)
15-75727131-C-T		not specified	Uncertain significance (Jul 19, 2023)
15-75727134-A-G		not specified	Uncertain significance (Aug 14, 2024)
15-75727182-C-T		not specified	Uncertain significance (Feb 27, 2023)
15-75727202-A-T		not specified	Likely benign (Aug 05, 2023)
15-75727299-T-C		not specified	Uncertain significance (Dec 20, 2023)
15-75727323-C-T		not specified	Likely benign (Feb 22, 2023)
15-75727350-A-T		not specified	Uncertain significance (Nov 08, 2022)
15-75727385-C-G		not specified	Uncertain significance (Jul 31, 2024)
15-75727386-G-A		not specified	Uncertain significance (Mar 07, 2023)
15-75727391-G-C		not specified	Uncertain significance (Mar 02, 2023)
15-75727424-C-G		not specified	Uncertain significance (Dec 09, 2024)
15-75727454-G-A		not specified	Uncertain significance (Mar 03, 2022)
15-75727463-C-A		not specified	Uncertain significance (Sep 10, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP