CIMAP1A

Basic information

Region (hg38): 11:196761-200261

Links

ENSG00000177947 ∙ ∙ ∙ HGNC:19905 ∙ ∙ ∙ 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 CIMAP1A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CIMAP1A 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 CIMAP1A

This is a list of pathogenic ClinVar variants found in the CIMAP1A region.

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

Position	Type	Phenotype	Significance	ClinVar
11-197309-C-T		not specified	Uncertain significance (May 15, 2024)
11-197345-G-A		not specified	Uncertain significance (Dec 30, 2023)
11-197353-G-C		not specified	Uncertain significance (Dec 01, 2022)
11-197395-C-G		not specified	Uncertain significance (Apr 22, 2022)
11-197640-C-A		not specified	Uncertain significance (Mar 21, 2023)
11-197681-T-G		not specified	Uncertain significance (Aug 08, 2022)
11-197704-C-T		not specified	Uncertain significance (Jan 04, 2024)
11-197725-C-A		not specified	Uncertain significance (May 02, 2024)
11-198236-C-G		not specified	Uncertain significance (Mar 06, 2023)
11-198237-G-A		not specified	Uncertain significance (Nov 21, 2023)
11-198291-A-G		not specified	Uncertain significance (Dec 21, 2021)
11-198297-C-A		not specified	Uncertain significance (Oct 05, 2023)
11-198546-C-G			Likely benign (Nov 01, 2022)
11-198552-C-G		not specified	Uncertain significance (Jul 25, 2023)
11-198571-G-A		not specified	Uncertain significance (Dec 15, 2022)
11-198582-C-G		not specified	Uncertain significance (Apr 25, 2022)
11-199405-C-T		not specified	Uncertain significance (Jan 31, 2024)
11-199983-G-A		not specified	Uncertain significance (Sep 17, 2021)
11-199999-A-G		not specified	Uncertain significance (Mar 16, 2022)
11-200020-T-C		not specified	Uncertain significance (Aug 10, 2021)
11-200029-A-G		not specified	Uncertain significance (Jul 25, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP