CT47B1

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		2
missense			102 clinvar	7 clinvar		109
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	103	9	0	112

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001145718.3	RefSeq	NP_001139190.1	2	MANE Select
ENST00000371311.5	Ensembl	ENSP00000360360.3	2	MANE Select
ENST00001093237.1	Ensembl	ENSP00000763043.1	2	Standard
ENST00001132279.1	Ensembl	ENSP00000809852.1	2	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000371311
Coding exons: 2
Length: 3323
Individuals with no LoFs: 125367
Homozygous LoFs: 6
Heterozygous LoFs: 15
Defined: 125388
p: 0.0000837

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-6.06	347	143	2.43	0.0000138	1921
Missense (PolyPhen)		93	44.176	2.1052		582
Synonymous	-5.62	137	75.1	1.82	0.00000847	634
Loss of Function	-1.62	10	5.80	1.73	4.05e-7	104

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00015	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000073	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00019	0.00013	rare
South Asian	0.000053	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0456

Gene Damage Prediction

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