All transcript variants in gene ABCA3

Information The variants shown are described using the NM_001089.2 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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.160G>A VUS r.(?) p.(Ala54Thr) g.2376170C>T - ABCA3(NM_001089.2):c.160G>A (p.A54T) - ABCA3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.393C>T likely benign r.(?) p.(=) g.2374459G>A - ABCA3(NM_001089.2):c.393C>T (p.A131=) - ABCA3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.604G>A ACMG: 4 r.(?) p.(Gly202Arg) g.2373533C>T g.2323532C>T - - ABCA3_000002 - Trujillano et al., submitted - - Germline - - - 0 - Daniel Trujillano
?/. - c.1061C>T VUS r.(?) p.(Ala354Val) g.2367334G>A - ABCA3(NM_001089.2):c.1061C>T (p.A354V) - ABCA3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 12 c.1383G>A - r.(=) p.(=) g.2354054C>T g.2304053C>T - - ABCA3_000001 - - - - Germline - - - 0 - Olivier Danhaive
?/. 12 c.1383G>A - r.(?) p.(Val461=) g.2354054C>T g.2304053C>T - - ABCA3_000001 - PubMed: Peca 2015, Journal: Peca 2015 - - Germline - - - 0 - Johan den Dunnen
-/. - c.1755C>G benign r.(?) p.(=) g.2348528G>C - ABCA3(NM_001089.2):c.1755C>G (p.P585=) - ABCA3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.2268C>T likely benign r.(?) p.(=) g.2345737G>A - ABCA3(NM_001089.2):c.2268C>T (p.A756=) - ABCA3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2309C>T likely benign r.(?) p.(Pro770Leu) g.2345696G>A - ABCA3(NM_001089.2):c.2309C>T (p.P770L) - ABCA3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.2389A>C VUS r.(?) p.(Ile797Leu) g.2345616T>G - ABCA3(NM_001089.2):c.2389A>C (p.I797L) - ABCA3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.2460G>A likely benign r.(?) p.(=) g.2342194C>T - ABCA3(NM_001089.2):c.2460G>A (p.L820=) - ABCA3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.3279G>A likely benign r.(?) p.(=) g.2335647C>T - ABCA3(NM_001089.2):c.3279G>A (p.E1093=) - ABCA3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.3284G>A likely benign r.(?) p.(Arg1095Gln) g.2335642C>T - ABCA3(NM_001089.2):c.3284G>A (p.R1095Q) - ABCA3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.3373G>A likely benign r.(?) p.(Val1125Met) g.2335553C>T - ABCA3(NM_001089.2):c.3373G>A (p.V1125M) - ABCA3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.4116T>C benign r.(?) p.(=) g.2331430A>G - ABCA3(NM_001089.2):c.4116T>C (p.S1372=) - ABCA3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.4165-8G>A VUS r.(=) p.(=) g.2331230C>T - ABCA3(NM_001089.2):c.4165-8G>A - ABCA3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.4420C>T likely benign r.(?) p.(Arg1474Trp) g.2329071G>A - ABCA3(NM_001089.2):c.4420C>T (p.R1474W) - ABCA3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.4420C>T likely benign r.(?) p.(Arg1474Trp) g.2329071G>A - ABCA3(NM_001089.2):c.4420C>T (p.R1474W) - ABCA3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.4871T>C VUS r.(?) p.(Leu1624Pro) g.2327918A>G - ABCA3(NM_001089.2):c.4871T>C (p.L1624P) - ABCA3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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