All variants in the LRRC8A gene

Information The variants shown are described using the NM_019594.3 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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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.-116+16G>C r.(=) p.(=) - likely benign g.131644545G>C - LRRC8A(NM_019594.3):c.-116+16G>C - CCBL1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.-8-19T>G r.(=) p.(=) - likely benign g.131669417T>G - LRRC8A(NM_019594.3):c.-8-19T>G - LRRC8A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.51C>T r.(?) p.(Tyr17=) - benign g.131669494C>T - LRRC8A(NM_019594.3):c.51C>T (p.Y17=) - LRRC8A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.117C>T r.(?) p.(=) - likely benign g.131669560C>T - LRRC8A(NM_019594.3):c.117C>T (p.A39=) - LRRC8A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 3 c.275C>T r.(?) p.(Thr92Met) ACMG VUS g.131669718C>T g.128907439C>T - - LRRC8A_000021 main disease-related variant PubMed: Stray-Pedersen 2017 - - Germline - - - - - Johan den Dunnen
-?/. - c.600C>T r.(?) p.(Thr200=) - likely benign g.131670043C>T - LRRC8A(NM_001127244.1):c.600C>T (p.T200=) - LRRC8A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.625G>A r.(?) p.(Val209Met) - likely benign g.131670068G>A g.128907789G>A LRRC8A(NM_001127244.1):c.625G>A (p.V209M) - LRRC8A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.669C>T r.(?) p.(Ile223=) - likely benign g.131670112C>T - LRRC8A(NM_001127244.1):c.669C>T (p.I223=) - LRRC8A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.670G>A r.(?) p.(Val224Met) - VUS g.131670113G>A - LRRC8A(NM_001127244.1):c.670G>A (p.V224M) - LRRC8A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.670G>A r.(?) p.(Val224Met) - VUS g.131670113G>A - LRRC8A(NM_001127244.1):c.670G>A (p.V224M) - LRRC8A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.759T>C r.(?) p.(His253=) - likely benign g.131670202T>C - LRRC8A(NM_001127244.1):c.759T>C (p.H253=) - LRRC8A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.784C>T r.(?) p.(Arg262Cys) - VUS g.131670227C>T g.128907948C>T - - LRRC8A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1006T>G r.(?) p.(Cys336Gly) - VUS g.131670449T>G - LRRC8A(NM_019594.4):c.1006T>G (p.C336G) - LRRC8A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1075G>A r.(?) p.(Glu359Lys) - VUS g.131670518G>A g.128908239G>A LRRC8A(NM_001127244.2):c.1075G>A (p.E359K) - LRRC8A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1107G>C r.(?) p.(Lys369Asn) - VUS g.131670550G>C g.128908271G>C - - LRRC8A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1249C>T r.(?) p.(Arg417Trp) - VUS g.131670692C>T - LRRC8A(NM_019594.4):c.1249C>T (p.R417W) - LRRC8A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1371C>T r.(?) p.(Pro457=) - benign g.131670814C>T g.128908535C>T LRRC8A(NM_001127244.1):c.1371C>T (p.P457=) - LRRC8A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1371C>T r.(?) p.(Pro457=) - likely benign g.131670814C>T - LRRC8A(NM_001127244.1):c.1371C>T (p.P457=) - LRRC8A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1374C>T r.(?) p.(Asp458=) - likely benign g.131670817C>T g.128908538C>T LRRC8A(NM_001127244.1):c.1374C>T (p.D458=) - LRRC8A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1397C>T r.(?) p.(Ala466Val) - VUS g.131670840C>T - LRRC8A(NM_019594.4):c.1397C>T (p.A466V) - LRRC8A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1476= r.(=) p.(Arg492=) - benign g.131670919T>C g.128908640T>C LRRC8A(NM_001127244.2):c.1476T>C (p.R492=) - LRRC8A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1509C>T r.(=) p.(=) - benign g.131670952C>T g.128908673C>T - - LRRC8A_000009 207 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3750318 Germline - 207/2795 individuals - - - Mohammed Faruq
-/. - c.1509C>T r.(=) p.(=) - benign g.131670952C>T g.128908673C>T - - LRRC8A_000009 8 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3750318 Germline - 8/2795 individuals - - - Mohammed Faruq
-/. - c.1606G>A r.(?) p.(Val536Ile) - benign g.131671049G>A - LRRC8A(NM_019594.3):c.1606G>A (p.V536I) - LRRC8A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1699G>A r.(?) p.(Val567Met) - likely benign g.131671142G>A - LRRC8A(NM_001127244.1):c.1699G>A (p.V567M) - LRRC8A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1788G>A r.(?) p.(Leu596=) - likely benign g.131671231G>A - LRRC8A(NM_001127244.1):c.1788G>A (p.L596=) - LRRC8A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.1803T>C r.(?) p.(Cys601=) - likely benign g.131671246T>C - LRRC8A(NM_019594.3):c.1803T>C (p.C601=) - LRRC8A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1995G>A r.(?) p.(Glu665=) - benign g.131671438G>A g.128909159G>A LRRC8A(NM_001127244.1):c.1995G>A (p.E665=) - LRRC8A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1995G>A r.(?) p.(Glu665=) - likely benign g.131671438G>A - LRRC8A(NM_001127244.1):c.1995G>A (p.E665=) - LRRC8A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.2157+11C>T r.(=) p.(=) - likely benign g.131671611C>T - LRRC8A(NM_019594.3):c.2157+11C>T - LRRC8A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.2245A>G r.(?) p.(Arg749Gly) - VUS g.131678462A>G g.128916183A>G LRRC8A(NM_001127244.1):c.2245A>G (p.R749G) - PHYHD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2253C>T r.(?) p.(Gly751=) - likely benign g.131678470C>T g.128916191C>T LRRC8A(NM_001127244.1):c.2253C>T (p.G751=) - PHYHD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2322C>T r.(?) p.(=) - likely benign g.131678539C>T - LRRC8A(NM_019594.4):c.2322C>T (p.(Gly774=)) - PHYHD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2346C>A r.(?) p.(Ser782Arg) - VUS g.131678563C>A - LRRC8A(NM_001127244.1):c.2346C>A (p.S782R) - PHYHD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2402G>A r.(?) p.(Arg801Gln) - likely benign g.131678619G>A g.128916340G>A LRRC8A(NM_001127244.1):c.2402G>A (p.R801Q), LRRC8A(NM_019594.4):c.2402G>A (p.R801Q) - PHYHD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2402G>A r.(?) p.(Arg801Gln) - likely benign g.131678619G>A - LRRC8A(NM_001127244.1):c.2402G>A (p.R801Q), LRRC8A(NM_019594.4):c.2402G>A (p.R801Q) - PHYHD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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