RMDN1

regulator of microtubule dynamics 1

Basic information

Region (hg38): 8:86468256-86514357

Previous symbols: [ "FAM82B" ]

Links

ENSG00000176623 ∙ NCBI:51115 ∙ OMIM:611871 ∙ HGNC:24285 ∙ Uniprot:Q96DB5 ∙ 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 RMDN1 gene.

• Inborn genetic diseases (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RMDN1 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in RMDN1

This is a list of pathogenic ClinVar variants found in the RMDN1 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-86474834-C-G		not specified	Uncertain significance (May 30, 2023)
8-86474843-C-T		not specified	Uncertain significance (Jul 09, 2021)
8-86477302-G-A		not specified	Uncertain significance (Oct 10, 2023)
8-86478949-T-C		not specified	Uncertain significance (Mar 07, 2023)
8-86484945-A-C		not specified	Uncertain significance (May 27, 2022)
8-86486488-T-C		not specified	Uncertain significance (Jan 23, 2023)
8-86486602-C-T		not specified	Uncertain significance (Jul 12, 2023)
8-86488598-C-T		not specified	Uncertain significance (Dec 01, 2022)
8-86488618-G-A		not specified	Uncertain significance (Mar 14, 2023)
8-86507007-C-T		not specified	Uncertain significance (Jan 09, 2024)
8-86507074-T-G		not specified	Uncertain significance (Mar 21, 2023)
8-86508557-G-A		not specified	Uncertain significance (Apr 22, 2022)
8-86508574-C-A		not specified	Uncertain significance (Jul 12, 2022)
8-86508597-C-A		not specified	Uncertain significance (Apr 22, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RMDN1	protein_coding	protein_coding	ENST00000406452	10	46101

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.90e-10	0.232	125637	1	110	125748	0.000441

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.338	168	156	1.08	0.00000746	2014
Missense in Polyphen		35	25.618	1.3662		302
Synonymous	-0.557	62	56.7	1.09	0.00000273	588
Loss of Function	0.673	16	19.2	0.834	8.15e-7	256

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000535	0.000526
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000109	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000239	0.000229
Middle Eastern	0.000109	0.0000544
South Asian	0.00230	0.00229
Other	0.000505	0.000489

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.104

Intolerance Scores

• rvis_EVS: -0.09
• rvis_percentile_EVS: 46.74

Haploinsufficiency Scores

• pHI: 0.160
• hipred: N
• hipred_score: 0.159
• ghis: 0.543

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rmdn1

Gene ontology

• Cellular component: spindle pole;cytoplasm;microtubule