CRYBG2

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			268 clinvar	28 clinvar		296
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	277	41	0	318

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001039775.4	RefSeq	NP_001034864.2	19	MANE Select
ENST00000308182.10	Ensembl	ENSP00000310435.6	19	MANE Select
ENST00000429942.2	Ensembl	ENSP00000409834.2	9	Standard
ENST00000475866.3	Ensembl	ENSP00000428746.2	22	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

carbohydrate binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000527815
Coding exons: 19
Length: 32272
Individuals with no LoFs: 125564
Homozygous LoFs: 0
Heterozygous LoFs: 184
Defined: 125748
p: 0.000732

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.32	364	442	0.823	0.0000252	5002
Missense (PolyPhen)		137	189.47	0.72309		2185
Synonymous	0.353	182	188	0.967	0.0000116	1572
Loss of Function	2.65	25	44.0	0.568	0.00000203	488

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00037	0.00037	rare
Latino/Admixed American	0.0026	0.0026	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0.00048	0.00046	rare
European (Non-Finnish)	0.00031	0.00030	rare
South Asian	0.0011	0.0011	notable
Other	0.0013	0.0013	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.105