C9orf50

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				1 clinvar		1
missense			4 clinvar	2 clinvar		6
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	4	3	0	7

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_199350.4	RefSeq	NP_955382.3	7	MANE Select
ENST00000372478.5	Ensembl	ENSP00000361556.4	7	MANE Select
ENST00000619117.1	Ensembl	ENSP00000480795.1	2	Standard
ENST00000619117.2	Ensembl	ENSP00000480795.1	2	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000372478
Coding exons: 7
Length: 8552
Individuals with no LoFs: 125703
Homozygous LoFs: 0
Heterozygous LoFs: 28
Defined: 125731
p: 0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.786	164	195	0.842	0.0000116	2664
Missense (PolyPhen)		26	34.967	0.74355		504
Synonymous	1.02	77	89.2	0.863	0.00000560	958
Loss of Function	0.484	13	15.0	0.865	7.30e-7	182

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00061	0.00060	rare
Finnish	0.000050	0.000046	rare
European (Non-Finnish)	0.000098	0.000097	rare
South Asian	0.000066	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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