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WormBase Tree Display for Variation: WBVar00094660

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WBVar00094660	Evidence	Paper_evidence	WBPaper00005082
	Name	Public_name	or28
		Other_name	CE16526:p.Gly123Asp
			VF36H2L.1.1:c.368G>A
		HGVSg	CHROMOSOME_I:g.9232884C>T
	Sequence_details	SMap	S_parent	Sequence	VF36H2L
		Flanking_sequences	atgctcgtcacatgcttgcacttgtctgtg	tctcggaatgggtgtaatctcagcactttt
		Mapping_target	VF36H2L
		Type_of_mutation	Substitution	g	a
		SeqStatus	Sequenced
	Variation_type	Allele
	Origin	Species	Caenorhabditis elegans
		Strain	WBStrain00007372
			WBStrain00007373
			WBStrain00007374
			WBStrain00007375
		Laboratory	EU
		Status	Live
	Affects	Gene	WBGene00000147
		Transcript	VF36H2L.1.1 (12)
		Interactor	WBInteraction000521900
			WBInteraction000521903
	Genetics	Interpolated_map_position	I	3.67967
	Description	Phenotype	WBPhenotype:0000006	Paper_evidence	WBPaper00005082
				Curator_confirmed	WBPerson2021
				Penetrance	Complete		Paper_evidence	WBPaper00005082
							Curator_confirmed	WBPerson2021
					Range	100	100	Paper_evidence	WBPaper00005082
								Curator_confirmed	WBPerson2021
				Recessive	Paper_evidence	WBPaper00005082
					Curator_confirmed	WBPerson2021
				EQ_annotations	Life_stage	WBls:0000041	PATO:0000460	Paper_evidence	WBPaper00005082
								Curator_confirmed	WBPerson2021
			WBPhenotype:0000050	Paper_evidence	WBPaper00005082
					WBPaper00040544
				Curator_confirmed	WBPerson2021
					WBPerson712
				Remark	severe allele of aph-1 that causes fully penetrant embryonic lethality	Paper_evidence	WBPaper00040544
						Curator_confirmed	WBPerson712
				Penetrance	Complete		Paper_evidence	WBPaper00005082
								WBPaper00040544
							Curator_confirmed	WBPerson2021
								WBPerson712
					Range	100	100	Paper_evidence	WBPaper00005082
								Curator_confirmed	WBPerson2021
				Recessive	Paper_evidence	WBPaper00005082
					Curator_confirmed	WBPerson2021
				EQ_annotations	Life_stage	WBls:0000003	PATO:0000460	Paper_evidence	WBPaper00005082
								Curator_confirmed	WBPerson2021
				Maternal
			WBPhenotype:0000080	Paper_evidence	WBPaper00040544
				Curator_confirmed	WBPerson712
				Remark	embryos lack an anterior pharynx (due to failed Notch signaling at the 12-cell stage)	Paper_evidence	WBPaper00040544
						Curator_confirmed	WBPerson712
				Penetrance	Complete		Paper_evidence	WBPaper00040544
							Curator_confirmed	WBPerson712
				EQ_annotations	Life_stage	WBls:0000072	PATO:0000460	Paper_evidence	WBPaper00040544
								Curator_confirmed	WBPerson712
			WBPhenotype:0000749	Paper_evidence	WBPaper00040544
				Curator_confirmed	WBPerson712
				Remark	Embryos fail to complete body morphogenesis because of failed Notch signaling at the 4- cell stage	Paper_evidence	WBPaper00040544
						Curator_confirmed	WBPerson712
				Penetrance	Complete		Paper_evidence	WBPaper00040544
							Curator_confirmed	WBPerson712
				EQ_annotations	Life_stage	WBls:0000008	PATO:0000460	Paper_evidence	WBPaper00040544
								Curator_confirmed	WBPerson712
			WBPhenotype:0001566	Paper_evidence	WBPaper00005082
				Curator_confirmed	WBPerson2021
				Remark	Hypodermis fails to enclose the embryo, and instead clumps together on the dorsal side of the embryo.	Paper_evidence	WBPaper00005082
						Curator_confirmed	WBPerson2021
				Penetrance	Complete		Paper_evidence	WBPaper00005082
							Curator_confirmed	WBPerson2021
					Range	100	100	Paper_evidence	WBPaper00005082
								Curator_confirmed	WBPerson2021
				Recessive	Paper_evidence	WBPaper00005082
					Curator_confirmed	WBPerson2021
				EQ_annotations	Life_stage	WBls:0000003	PATO:0000460	Paper_evidence	WBPaper00005082
								Curator_confirmed	WBPerson2021
				Maternal
	Reference	WBPaper00040544
		WBPaper00019801
		WBPaper00005082
		WBPaper00026143
		WBPaper00013342
	Method	Substitution_allele