All variants in the LAS1L gene

Information The variants shown are described using the NM_031206.4 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.5C>T r.(?) p.(Ser2Leu) - likely benign g.64754591G>A g.65534711G>A LAS1L(NM_031206.4):c.5C>T (p.S2L) - LAS1L_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.132C>T r.(?) p.(Ala44=) - likely benign g.64754464G>A g.65534584G>A LAS1L(NM_031206.4):c.132C>T (p.A44=) - LAS1L_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.342C>G r.(?) p.(Leu114=) - likely benign g.64753510G>C - LAS1L(NM_031206.4):c.342C>G (p.L114=) - LAS1L_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.342C>G r.(?) p.(Leu114=) - likely benign g.64753510G>C - LAS1L(NM_031206.4):c.342C>G (p.L114=) - LAS1L_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.353C>T r.(?) p.(Ala118Val) - VUS g.64753499G>A g.65533619G>A - - LAS1L_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.646A>G r.(?) p.(Asn216Asp) - likely benign g.64749627T>C - LAS1L(NM_031206.4):c.646A>G (p.N216D) - LAS1L_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.649A>G r.(?) p.(Ile217Val) - likely benign g.64749624T>C g.65529744T>C LAS1L(NM_031206.4):c.649A>G (p.I217V) - LAS1L_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.707C>G r.(?) p.(Thr236Arg) - likely benign g.64749566G>C g.65529686G>C LAS1L(NM_031206.4):c.707C>G (p.T236R) - LAS1L_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.708G>A r.(?) p.(Thr236=) - likely benign g.64749565C>T - LAS1L(NM_031206.4):c.708G>A (p.T236=) - LAS1L_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 6 c.806C>G r.(?) p.(Ala269Gly) - VUS g.64749132G>C g.65529252G>C A269G - LAS1L_000016 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
+/. 6 c.806C>G r.(?) p.(Ala269Gly) - pathogenic (recessive) g.64749132G>C g.65529252G>C Ala269Gly - LAS1L_000016 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
-?/. - c.845C>T r.(?) p.(Thr282Met) - likely benign g.64749093G>A g.65529213G>A LAS1L(NM_031206.4):c.845C>T (p.T282M) - LAS1L_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1082C>G r.(?) p.(Pro361Arg) - likely benign g.64744455G>C g.65524575G>C LAS1L(NM_031206.4):c.1082C>G (p.P361R) - LAS1L_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1209C>G r.(?) p.(Leu403=) - likely benign g.64744027G>C g.65524147G>C LAS1L(NM_031206.4):c.1209C>G (p.L403=) - LAS1L_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 10 c.1243C>T r.(?) p.(Arg415Trp) - pathogenic (recessive) g.64743993G>A g.65524113G>A Arg415Trp - LAS1L_000017 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
-?/. - c.1248T>A r.(?) p.(Pro416=) - likely benign g.64743988A>T - LAS1L(NM_031206.4):c.1248T>A (p.P416=) - LAS1L_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1269C>T r.(?) p.(Thr423=) - likely benign g.64743967G>A - LAS1L(NM_031206.4):c.1269C>T (p.T423=) - LAS1L_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1281C>T r.(?) p.(Ile427=) - likely benign g.64743955G>A g.65524075G>A LAS1L(NM_031206.4):c.1281C>T (p.I427=) - LAS1L_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1371C>T r.(?) p.(Ser457=) - likely benign g.64743517G>A g.65523637G>A LAS1L(NM_031206.4):c.1371C>T (p.S457=) - LAS1L_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1430G>A r.(?) p.(Ser477Asn) - likely pathogenic g.64743458C>T g.65523578C>T - - LAS1L_000025 13 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797044926 Germline - 13/2654 individuals - 0 - Mohammed Faruq
?/. - c.1441C>T r.(?) p.(Leu481Phe) - VUS g.64743447G>A g.65523567G>A - - LAS1L_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1449-732C>T r.(=) p.(=) - VUS g.64739077G>A g.65519197G>A - - LAS1L_000004 - - - - Germline - - - - - Yu Sun
?/. - c.1449-732C>T r.(=) p.(=) - VUS g.64739077G>A g.65519197G>A - - LAS1L_000004 - - - - Germline - - - - - Yu Sun
?/. - c.1504C>T r.(?) p.(Arg502Cys) - VUS g.64738290G>A - LAS1L(NM_031206.4):c.1504C>T (p.R502C) - LAS1L_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1639G>A r.(?) p.(Gly547Arg) - likely benign g.64738155C>T - LAS1L(NM_031206.4):c.1639G>A (p.G547R) - LAS1L_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1691T>C r.(?) p.(Val564Ala) - likely benign g.64738103A>G g.65518223A>G LAS1L(NM_031206.4):c.1691T>C (p.V564A) - LAS1L_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1735G>A r.(?) p.(Val579Ile) - likely benign g.64738059C>T g.65518179C>T LAS1L(NM_031206.4):c.1735G>A (p.V579I) - LAS1L_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1791_1793del r.(?) p.(Asp597del) - VUS g.64738006_64738008del g.65518126_65518128del LAS1L(NM_001170649.1):c.1740_1742del (p.(Asp580del)), LAS1L(NM_031206.4):c.1791_1793delTGA (p.D597del) - LAS1L_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1791_1793del r.(?) p.(Asp597del) - likely benign g.64738006_64738008del g.65518126_65518128del LAS1L(NM_001170649.1):c.1740_1742del (p.(Asp580del)), LAS1L(NM_031206.4):c.1791_1793delTGA (p.D597del) - LAS1L_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1791_1793del r.(?) p.(Asp597del) - likely benign g.64738006_64738008del g.65518126_65518128del LAS1L(NM_001170649.1):c.1740_1742del (p.(Asp580del)), LAS1L(NM_031206.4):c.1791_1793delTGA (p.D597del) - LAS1L_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1797_1805del r.(?) p.(Asp599_Glu601del) - likely benign g.64738006_64738014del - LAS1L(NM_031206.4):c.1797_1805delTGATGAAGA (p.D599_E601del) - LAS1L_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1850C>A r.(?) p.(Ser617Tyr) - likely benign g.64737944G>T g.65518064G>T LAS1L(NM_001170649.1):c.1799C>A (p.(Ser600Tyr)), LAS1L(NM_031206.4):c.1850C>A (p.S617Y) - LAS1L_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1850C>A r.(?) p.(Ser617Tyr) - likely benign g.64737944G>T g.65518064G>T LAS1L(NM_001170649.1):c.1799C>A (p.(Ser600Tyr)), LAS1L(NM_031206.4):c.1850C>A (p.S617Y) - LAS1L_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1911A>G r.(?) p.(Ala637=) - likely benign g.64737883T>C - LAS1L(NM_031206.4):c.1911A>G (p.A637=) - LAS1L_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.2078+273del r.(=) p.(=) - VUS g.64734430del g.65514550del - - LAS1L_000007 - - - - Germline - - - - - Yu Sun
?/. - c.2078+287_2078+288del r.(=) p.(=) - VUS g.64734446_64734447del g.65514566_65514567del - - LAS1L_000002 - - - - Germline - - - - - Yu Sun
?/. - c.2078+287_2078+288del r.(=) p.(=) - VUS g.64734446_64734447del g.65514566_65514567del - - LAS1L_000002 - - - - Germline - - - - - Yu Sun
?/. - c.2162A>C r.(?) p.(Gln721Pro) - VUS g.64732698T>G - LAS1L(NM_031206.4):c.2162A>C (p.Q721P) - LAS1L_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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