C11orf98

chromosome 11 open reading frame 98

Basic information

Region (hg38): 11:62662816-62665210

Previous symbols: [ "C11orf48" ]

Links

ENSG00000278615

∙ NCBI:102288414 ∙ ∙ HGNC:51238 ∙ Uniprot:E9PRG8 ∙ 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 C11orf98 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C11orf98 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			2 clinvar			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	0

Variants in C11orf98

This is a list of pathogenic ClinVar variants found in the C11orf98 region.

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

Position	Phenotype	Significance	ClinVar
11-62663240-C-T	not specified	Uncertain significance (Mar 01, 2023)	2467546
11-62663244-G-C	not specified	Uncertain significance (Jun 06, 2023)	2557949
11-62664937-A-C	not specified	Uncertain significance (Mar 21, 2024)	3290210
11-62664970-G-A	not specified	Uncertain significance (Mar 29, 2024)	3290208

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
rvis_EVS: 0.59
rvis_percentile_EVS: 82.51

Haploinsufficiency Scores

pHI: 0.0600
hipred: N
hipred_score: 0.123
ghis

Mouse Genome Informatics

Gene name: 1810009A15Rik
Phenotype