GOLGA6L2

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			5 clinvar	2 clinvar		7
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	5	2	0	7

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001304388.2	RefSeq	NP_001291317.1	8	MANE Select
ENST00000567107.6	Ensembl	ENSP00000454407.1	8	MANE Select
ENST00000566571.5	Ensembl	ENSP00000456523.1	6	Standard
ENST00001135269.1	Ensembl	ENSP00000814159.1	8	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000567107
Coding exons: 8
Length: 7737
Individuals with no LoFs: 123729
Homozygous LoFs: 0
Heterozygous LoFs: 64
Defined: 123793
p: 0.000259

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.600	432	469	0.922	0.0000275	5655
Missense (PolyPhen)		50	59.843	0.83551		888
Synonymous	1.01	150	167	0.900	0.00000975	1643
Loss of Function	0.908	11	14.8	0.745	8.09e-7	186

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0021	0.0018	notable
Latino/Admixed American	0.00021	0.00020	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00039	0.00038	rare
Finnish	0.000064	0.000050	rare
European (Non-Finnish)	0.00013	0.00012	rare
South Asian	0.00020	0.00020	rare
Other	0.00017	0.00017	rare

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR2): S
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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