TBC1D29P

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

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000580161
Coding exons: 5
Length: 6382
Individuals with no LoFs: 113534
Homozygous LoFs: 426
Heterozygous LoFs: 11785
Defined: 125745
p: 0.0498

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0792	81	83.0	0.976	0.00000423	943
Missense (PolyPhen)		27	32.243	0.83739		382
Synonymous	1.65	20	31.8	0.628	0.00000161	310
Loss of Function	0.315	5	5.82	0.859	2.47e-7	66

Population LoF Frequency

Population	CAF	p-value	Status
African	0.013	0.012	notable
Latino/Admixed American	0.020	0.020	notable
Ashkenazi Jewish	0.034	0.034	notable
East Asian	0.00038	0.00038	rare
Finnish	0.11	0.11	notable
European (Non-Finnish)	0.068	0.067	notable
South Asian	0.033	0.032	notable
Other	0.058	0.058	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.22
RVIS percentile EVS: 67.92

Essentials

Essential (gene trap): N