Unique variants in the ABCD4 gene

Information The variants shown are described using the NM_005050.3 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
Legend   How to query  

Effect     

Reported     

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     
-/. 1 - c.10G>C r.(?) p.(Ala4Pro) - benign g.74769606C>G g.74302903C>G ABCD4(NM_005050.3):c.10G>C (p.A4P) - ABCD4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.141G>C r.(?) p.(Leu47Phe) - VUS g.74766869C>G g.74300166C>G - - ABCD4_000027 13 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147446660 Germline - 13/2793 individuals - - - Mohammed Faruq
-/. 1 - c.184T>C r.(?) p.(Leu62=) - benign g.74766352A>G g.74299649A>G ABCD4(NM_005050.4):c.184T>C (p.L62=) - ABCD4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.195T>C r.(?) p.(Ser65=) - likely benign g.74766341A>G - ABCD4(NM_005050.4):c.195T>C (p.S65=) - ABCD4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/., ?/. 2 - c.362G>A r.(?) p.(Arg121His) - likely pathogenic, VUS g.74764696C>T g.74297993C>T ABCD4(NM_005050.3):c.362G>A (p.(Arg121His)), 1 more item - ABCD4_000011 VKGL data sharing initiative Nederland PubMed: Nair 2018 - rs201744101 CLASSIFICATION record, Unknown ? - - - - VKGL-NL_Leiden
?/. 1 - c.394C>T r.(?) p.(Leu132Phe) - VUS g.74764664G>A g.74297961G>A ABCD4(NM_005050.3):c.394C>T (p.L132F) - ABCD4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.543-14T>C r.(=) p.(=) - likely benign g.74762696A>G g.74295993A>G ABCD4(NM_005050.4):c.543-14T>C - ABCD4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.565A>G r.(?) p.(Ser189Gly) - VUS g.74762660T>C - ABCD4(NM_020325.2):c.565A>G (p.S189G) - ABCD4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.910G>A r.(?) p.(Ala304Thr) - benign g.74759477C>T g.74292774C>T ABCD4(NM_005050.4):c.910G>A (p.A304T) - ABCD4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.981C>A r.(?) p.(Leu327=) - benign g.74759301G>T g.74292598G>T ABCD4(NM_005050.4):c.981C>A (p.L327=) - ABCD4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.1036C>T r.(?) p.(Gln346*) - likely pathogenic g.74759072G>A - ABCD4(NM_020325.2):c.1036C>T (p.Q346*) - ABCD4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1042C>T r.(?) p.(Arg348Trp) - benign g.74759066G>A g.74292363G>A ABCD4(NM_005050.3):c.1042C>T (p.R348W) - ABCD4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1102G>A r.(?) p.(Glu368Lys) - benign g.74759006C>T g.74292303C>T ABCD4(NM_005050.4):c.1102G>A (p.E368K) - ABCD4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1230G>A r.(?) p.(Lys410=) - likely benign g.74757091C>T g.74290388C>T ABCD4(NM_020325.2):c.1230G>A (p.K410=) - ABCD4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1346C>T r.(?) p.(Thr449Met) - VUS g.74756803G>A g.74290100G>A ABCD4(NM_005050.3):c.1346C>T (p.T449M) - ABCD4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.1411C>T r.(?) p.(Arg471Trp) - likely benign, VUS g.74756738G>A g.74290035G>A ABCD4(NM_020325.2):c.1411C>T (p.R471W) - ABCD4_000026 7 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs45568335 CLASSIFICATION record, Germline - 7/2795 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
-?/. 1 - c.1507-4A>G r.spl? p.? - likely benign g.74754966T>C g.74288263T>C ABCD4(NM_005050.3):c.1507-4A>G (p.?) - ABCD4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/., ?/. 2 - c.1520C>A r.(?) p.(Ala507Glu) - likely pathogenic, VUS g.74754949G>T g.74288246G>T ABCD4(NM_005050.3):c.1520C>A (p.(Ala507Glu)), 1 more item - ABCD4_000003 VKGL data sharing initiative Nederland PubMed: Nair 2018 - - CLASSIFICATION record, Unknown ? - - - - VKGL-NL_Leiden
?/. 1 - c.1574C>G r.(?) p.(Ser525Cys) - VUS g.74754575G>C g.74287872G>C ABCD4(NM_005050.3):c.1574C>G (p.(Ser525Cys)) - ABCD4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1730G>A r.(?) p.(Gly577Glu) - VUS g.74753426C>T g.74286723C>T ABCD4(NM_005050.3):c.1730G>A (p.(Gly577Glu)) - ABCD4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.1736G>A r.(?) p.(Arg579Gln) - likely benign g.74753420C>T g.74286717C>T ABCD4(NM_020325.2):c.1736G>A (p.R579Q) - ABCD4_000025 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs143288344 CLASSIFICATION record, Germline - 1/2794 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
-?/. 1 - c.1752+5C>T r.spl? p.? - likely benign g.74753399G>A - ABCD4(NM_005050.4):c.1752+5C>T - ABCD4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1753-46A>G r.(=) p.(=) - benign g.74753278T>C g.74286575T>C ABCD4(NM_005050.4):c.1753-46A>G - ABCD4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
Legend   How to query