ARMCX6

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	1 clinvar		3
missense			26 clinvar	2 clinvar		28
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	29	3	0	32

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 30 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_019007.4	RefSeq	NP_061880.2	1	MANE Select
ENST00000361910.9	Ensembl	ENSP00000354708.4	1	MANE Select
NM_001009584.2	RefSeq	NP_001009584.1	1	Standard
NM_001184768.2	RefSeq	NP_001171697.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

mitochondrial outer membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000539247
Coding exons: 1
Length: 2882
Individuals with no LoFs: 125720
Homozygous LoFs: 4
Heterozygous LoFs: 6
Defined: 125730
p: 0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.936	110	85.6	1.28	0.00000673	1951
Missense (PolyPhen)		31	25.093	1.2354		516
Synonymous	-1.84	47	33.5	1.40	0.00000271	576
Loss of Function	1.32	2	5.27	0.379	4.07e-7	109

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000036	0.000029	rare
Ashkenazi Jewish	0.00080	0.00060	rare
East Asian	0.000072	0.000054	rare
Finnish	0.000063	0.000046	rare
European (Non-Finnish)	0.000013	0.0000088	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May regulate the dynamics and distribution of mitochondria in neural cells. {ECO:0000250|UniProtKB:Q8K3A6}.;

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0105

Gene Damage Prediction

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