ANKRD36

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			3 clinvar	13 clinvar		16
missense		1 clinvar	9 clinvar	3 clinvar		13
nonsense			1 clinvar			1
start loss				1 clinvar		1
frameshift			1 clinvar		1 clinvar	2
splice donor/acceptor (+/-2bp)		1 clinvar	5 clinvar			6
Total	0	2	19	17	1	39

Highest pathogenic variant AF is 0.0005944078

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 76 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001354587.1	RefSeq	NP_001341516.1	75	MANE Select
ENST00000420699.9	Ensembl	ENSP00000391950.4	75	MANE Select
NM_198555.4	RefSeq	NP_940957.3	3	Standard
ENST00000461153.7	Ensembl	ENSP00000419530.3	75	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000420699
Coding exons: 75
Length: 151026
Individuals with no LoFs: 123243
Homozygous LoFs: 77
Heterozygous LoFs: 1475
Defined: 124795
p: 0.00624

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.38	794	692	1.15	0.0000337	12356
Missense (PolyPhen)		222	206.13	1.077		3217
Synonymous	-0.197	239	235	1.02	0.0000126	3286
Loss of Function	-2.05	117	95.4	1.23	0.00000433	1699

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00049	0.00045	rare
Latino/Admixed American	0.0018	0.0017	notable
Ashkenazi Jewish	0.019	0.018	notable
East Asian	0.071	0.059	notable
Finnish	0.000080	0.000046	rare
European (Non-Finnish)	0.00086	0.00079	rare
South Asian	0.0062	0.0054	notable
Other	0.0027	0.0025	notable

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N
Indispensability pred.: N
Indispensability score: 0.0333

Gene Damage Prediction

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