Full data view for gene EIF2S3

Information The variants shown are described using the NM_001415.3 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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     
-?/. - c.28C>T r.(?) p.(Leu10=) Unknown - likely benign g.24073113C>T - EIF2S3(NM_001415.3):c.28C>T (p.L10=) - EIF2S3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.99C>T r.(?) p.(=) Maternal (inferred) - likely benign g.24073761C>T g.24055644C>T - - EIF2S3_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 2 c.99C>T r.(?) p.(=) Maternal (inferred) - likely benign g.24073761C>T g.24055644C>T - - EIF2S3_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. - c.99C>T r.(?) p.(His33=) Unknown - benign g.24073761C>T g.24055644C>T EIF2S3(NM_001415.4):c.99C>T (p.H33=) - EIF2S3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.99C>T r.(=) p.(=) Parent #1 - likely benign g.24073761C>T g.24055644C>T H33H - EIF2S3_000003 recurrent, found 120 times PubMed: Tarpey 2009 - - Germline - 120/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 120 Lucy Raymond
-/. - c.99C>T r.(?) p.(His33=) Unknown - benign g.24073761C>T - EIF2S3(NM_001415.4):c.99C>T (p.H33=) - EIF2S3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.123A>G r.(?) p.(Thr41=) Unknown - likely benign g.24073785A>G g.24055668A>G EIF2S3(NM_001415.3):c.123A>G (p.T41=) - EIF2S3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.133+8T>C r.(=) p.(=) Unknown - likely benign g.24073803T>C - EIF2S3(NM_001415.3):c.133+8T>C - EIF2S3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.133+179A>G r.(=) p.(=) Maternal (inferred) - VUS g.24073974A>G g.24055857A>G - - EIF2S3_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.133+179A>G r.(=) p.(=) Maternal (inferred) - VUS g.24073974A>G g.24055857A>G - - EIF2S3_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.181A>G r.(?) p.(Ile61Val) Unknown - likely benign g.24075585A>G g.24057468A>G EIF2S3(NM_001415.3):c.181A>G (p.I61V) - EIF2S3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.324T>A r.(?) p.(Ser108Arg) Maternal (confirmed) - VUS g.24075812T>A g.24057695T>A - - EIF2S3_000008 - - - - Germline yes - - - - DNA SEQ blood - MEHMO;MRXS20;MRXS25 - - - M no United States white >05y - - - 1 Martina Skopkova
?/. - c.374A>G r.(?) p.(Lys125Arg) Parent #1 - VUS g.24075862A>G g.24057745A>G - - EIF2S3_000020 recurrent, found 8 times PubMed: Tarpey 2009 - - Germline - 8/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 8 Lucy Raymond
-/. - c.374A>G r.(?) p.(Lys125Arg) Unknown - benign g.24075862A>G - EIF2S3(NM_001415.4):c.374A>G (p.K125R) - EIF2S3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.383+7T>A r.(=) p.(=) Unknown - likely benign g.24075878T>A g.24057761T>A EIF2S3(NM_001415.3):c.383+7T>A (p.(=)) - EIF2S3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.451G>C r.(?) p.(Val151Leu) Parent #1 - VUS g.24078272G>C g.24060155G>C - - EIF2S3_000021 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.475A>T r.(?) p.(Ile159Leu) Unknown ACMG VUS g.24078296A>T g.24060179A>T - - EIF2S3_000025 - - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
-?/. 5i c.479-264G>C r.(?) p.(=) Maternal (inferred) - likely benign g.24080269G>C g.24062152G>C - - EIF2S3_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.529A>G r.(?) p.(Ile177Val) Unknown - VUS g.24080583A>G - EIF2S3(NM_001415.4):c.529A>G (p.(Ile177Val)) - EIF2S3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.722A>C r.(?) p.(Lys241Thr) Unknown - VUS g.24082402A>C g.24064285A>C EIF2S3(NM_001415.3):c.722A>C (p.K241T) - EIF2S3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.867+43_867+44dup r.(=) p.(=) Unknown - VUS g.24084252_24084253dup g.24066135_24066136dup - - EIF2S3_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.867+43_867+44dup r.(=) p.(=) Unknown - VUS g.24084252_24084253dup g.24066135_24066136dup - - EIF2S3_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.867+43_867+44dup r.(=) p.(=) Unknown - VUS g.24084252_24084253dup g.24066135_24066136dup - - EIF2S3_000017 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 8i c.867+44dup r.(?) p.(=) Unknown - likely benign g.24084253dup g.24066136dup - - EIF2S3_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.867+44dup r.(=) p.(=) Unknown - VUS g.24084253dup g.24066136dup - - EIF2S3_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 8i c.867+44dup r.(?) p.(=) Unknown - likely benign g.24084253dup g.24066136dup - - EIF2S3_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.867+44dup r.(=) p.(=) Unknown - VUS g.24084253dup g.24066136dup - - EIF2S3_000016 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.881T>C r.(?) p.(Ile294Thr) Unknown - VUS g.24086094T>C - EIF2S3(NM_001415.4):c.881T>C (p.(Ile294Thr)) - EIF2S3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.912T>C r.(?) p.(Asp304=) Unknown - likely benign g.24086125T>C - EIF2S3(NM_001415.3):c.912T>C (p.D304=, p.(Asp304=)) - EIF2S3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.912T>C r.(?) p.(Asp304=) Unknown - likely benign g.24086125T>C - EIF2S3(NM_001415.3):c.912T>C (p.D304=, p.(Asp304=)) - EIF2S3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1182+178T>C r.(=) p.(=) Maternal (inferred) - VUS g.24090022T>C g.24071905T>C - - EIF2S3_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1182+178T>C r.(=) p.(=) Maternal (inferred) - VUS g.24090022T>C g.24071905T>C - - EIF2S3_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1182+403T>C r.(=) p.(=) Maternal (inferred) - VUS g.24090247T>C g.24072130T>C - - EIF2S3_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. - c.1266C>T r.(?) p.(Ala422=) Unknown - benign g.24091291C>T - EIF2S3(NM_001415.4):c.1266C>T (p.A422=) - EIF2S3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1394_1397del r.(?) p.(Ile465Serfs*4) Maternal (confirmed) - pathogenic g.24094877_24094880del g.24076760_24076763del - - EIF2S3_000018 - - - - Germline yes - - - - DNA SEQ blood - MEHMO;MRXS20;MRXS25 - - - M no Slovakia (Slovak Republic) white >05y - - - 1 Martina Skopkova
+/. 12 c.1394_1397del r.(?) p.(Ile465Serfs*4) Maternal (confirmed) - pathogenic g.24094877_24094880del g.24076760_24076763del - - EIF2S3_000018 - - - - Germline yes - - - - DNA SEQ blood - MEHMO;MRXS20;MRXS25 - - - M no Germany white 04y - - - 1 Martina Skopkova
+/. 12 c.1394_1397del r.(?) p.(Ile465Serfs*4) Maternal (confirmed) - pathogenic g.24094877_24094880del g.24076760_24076763del - - EIF2S3_000018 - - - - Germline yes - - - - DNA SEQ blood - MEHMO;MRXS20;MRXS25 - - - M no Slovakia (Slovak Republic) white >01y06m - - - 1 Martina Skopkova
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