Full data view for gene YEATS2

Information The variants shown are described using the NM_018023.4 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. 1i c.-19-2952_-19-2918ATTTT[101_120] ATTTT[101_120] r.(=) p.(=) Parent #1 - benign g.183712192_183712226ATTTT[101_120] g.183429980_183430014ATTTT[101_120] - - YEATS2_000010 - PubMed: Yeetong 2019 - - Germline - 6/2232 control chromosomes - - - DNA PCRlr, PCR - - Healthy/Control controls PubMed: Yeetong 2019 analysis 1116 controls - - Thailand - - - - - 6 Johan den Dunnen
-/. 1i c.-19-2952_-19-2918ATTTT[21_40] ATTTT[21_40] r.(=) p.(=) Parent #1 - benign g.183712192_183712226ATTTT[21_40] g.183429980_183430014ATTTT[21_40] - - YEATS2_000006 - PubMed: Yeetong 2019 - - Germline - 658/2232 control chromosomes - - - DNA PCRlr, PCR - - Healthy/Control controls PubMed: Yeetong 2019 analysis 1116 controls - - Thailand - - - - - 658 Johan den Dunnen
-/. 1i c.-19-2952_-19-2918ATTTT[41_60] ATTTT[41_60] r.(=) p.(=) Parent #1 - benign g.183712192_183712226ATTTT[41_60] g.183429980_183430014ATTTT[41_60] - - YEATS2_000007 - PubMed: Yeetong 2019 - - Germline - 931/2232 control chromosomes - - - DNA PCRlr, PCR - - Healthy/Control controls PubMed: Yeetong 2019 analysis 1116 controls - - Thailand - - - - - 931 Johan den Dunnen
-/. 1i c.-19-2952_-19-2918ATTTT[4_20] ATTTT[4_20] r.(=) p.(=) Parent #1 - benign g.183712192_183712226ATTTT[4_20] g.183429980_183430014ATTTT[4_20] - - YEATS2_000005 - PubMed: Yeetong 2019 - - Germline - 260/2232 control chromosomes - - - DNA PCRlr, PCR - - Healthy/Control controls PubMed: Yeetong 2019 analysis 1116 controls - - Thailand - - - - - 260 Johan den Dunnen
-/. 1i c.-19-2952_-19-2918ATTTT[61_80] ATTTT[61_80] r.(=) p.(=) Parent #1 - benign g.183712192_183712226ATTTT[61_80] g.183429980_183430014ATTTT[61_80] - - YEATS2_000008 - PubMed: Yeetong 2019 - - Germline - 366/2232 control chromosomes - - - DNA PCRlr, PCR - - Healthy/Control controls PubMed: Yeetong 2019 analysis 1116 controls - - Thailand - - - - - 366 Johan den Dunnen
-/. 1i c.-19-2952_-19-2918ATTTT[81_100] ATTTT[81_100] r.(=) p.(=) Parent #1 - benign g.183712192_183712226ATTTT[81_100] g.183429980_183430014ATTTT[81_100] - - YEATS2_000009 - PubMed: Yeetong 2019 - - Germline - 7/2232 control chromosomes - - - DNA PCRlr, PCR - - Healthy/Control controls PubMed: Yeetong 2019 analysis 1116 controls - - Thailand - - - - - 7 Johan den Dunnen
+/. - c.(-19-3004_-19-2619)ins(4600_7600) ATTTT/ATTTC[(920_1520)] r.(=) p.(=) Parent #1 - pathogenic (dominant) g.(183429928_183430313)insN[(4600_7600)] g.(183712140_183712525)insN[(4600_7600)] - - YEATS2_000004 - PubMed: Yeetong 2019 - - Germline yes - - - - DNA PCRlr, PCRrp - - FAME FamPats PubMed: Yeetong 2019 - - - Thailand - - - - - 14 Johan den Dunnen
-?/. 1i c.-19-2952_-19-2918ATTTT[1219] ATTTT[1219] r.(=) p.(=) Parent #1 - likely benign g.183712192_183712226ATTTT[1219] g.183429980_183430014ATTTT[1219] - - YEATS2_000013 - PubMed: Yeetong 2019 - - Germline - 1/2232 control chromosomes - - - DNA PCRlr, PCR - - Healthy/Control controls PubMed: Yeetong 2019 analysis 1116 controls - - Thailand - - - - - 1 Johan den Dunnen
-?/. 1i c.-19-2952_-19-2918ATTTT[719] ATTTT[719] r.(=) p.(=) Parent #1 - likely benign g.183712192_183712226ATTTT[719] g.183429980_183430014ATTTT[719] - - YEATS2_000011 - PubMed: Yeetong 2019 - - Germline - 1/2232 control chromosomes - - - DNA PCRlr, PCR - - Healthy/Control controls PubMed: Yeetong 2019 analysis 1116 controls - - Thailand - - - - - 1 Johan den Dunnen
-?/. 1i c.-19-2952_-19-2918ATTTT[919] ATTTT[919] r.(=) p.(=) Parent #1 - likely benign g.183712192_183712226ATTTT[919] g.183429980_183430014ATTTT[919] - - YEATS2_000012 - PubMed: Yeetong 2019 - - Germline - 2/2232 control chromosomes - - - DNA PCRlr, PCR - - Healthy/Control controls PubMed: Yeetong 2019 analysis 1116 controls - - Thailand - - - - - 2 Johan den Dunnen
+/. 1i c.-19-2952_-19-2918ATTTT[(690_820)]ATTTC[(190_250)] ATTTT[(690_820)]ATTTC[(190_250)] r.(?) p.(?) Maternal (confirmed) - pathogenic (dominant) g.183429980_183430014ATTTT[(690_820)]ATTTC[(190_250)] g.183712192_183712226ATTTT[(690_820)]ATTTC[(190_250)] - - YEATS2_000002 - PubMed: Yeetong 2019 - - Germline yes - - - - DNA PCRlr, PCRrp, SEQ, SEQ-NG, SEQ-PB, Southern - - FAME FamPatIII4 PubMed: Yeetong 2019 3-generation family, 15 affected (6F, 9M), PatIII4 M no Thailand - - - - - 15 Johan den Dunnen
-/. 1i c.-19-2952_-19-2918ATTTT[(6_59)] ATTTT[(6_59)] r.(=) p.(=) Paternal (confirmed) - benign g.183429980_183430014ATTTT[(6_59)] g.183712192_183712226ATTTT[(6_59)] - - YEATS2_000003 - PubMed: Yeetong 2019 - - Germline no - - - - DNA PCRlr, PCRrp, SEQ, SEQ-NG, SEQ-PB, Southern - - FAME FamPatIII4 PubMed: Yeetong 2019 3-generation family, 15 affected (6F, 9M), PatIII4 M no Thailand - - - - - 15 Johan den Dunnen
-/. 1i c.-19-2952_-19-2918ATTTT[(6_59)] ATTTT[(6_59)] r.(=) p.(=) Parent #2 - benign g.183429980_183430014ATTTT[(6_59)] g.183712192_183712226ATTTT[(6_59)] - - YEATS2_000003 - PubMed: Yeetong 2019 - - Germline no - - - - DNA PCRlr, PCRrp - - FAME FamPats PubMed: Yeetong 2019 - - - Thailand - - - - - 14 Johan den Dunnen
?/. - c.635del - r.(?) p.(Val212Glyfs*66) Unknown - VUS g.183442304del - YEATS2(NM_018023.5):c.635del (p.(Val212Glyfs*66)) - YEATS2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1541C>T - r.(?) p.(Thr514Ile) Unknown - likely benign g.183474466C>T - YEATS2(NM_018023.5):c.1541C>T (p.T514I) - YEATS2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2206+212_2206+215dup - r.(=) p.(=) Unknown - likely benign g.183490563_183490566dup - YEATS2(NM_018023.5):c.2206+212_2206+215dup - YEATS2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2436_2438del - r.(?) p.(Gly814del) Unknown - benign g.183493770_183493772del g.183775982_183775984del YEATS2(NM_018023.4):c.2436_2438delAGG (p.G814del) - YEATS2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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