Full data view for gene ALKBH8

Information The variants shown are described using the NM_138775.2 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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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.49_51del r.(?) p.(Lys17del) Unknown - VUS g.107431574_107431576del - ALKBH8(NM_138775.3):c.49_51del (p.(Lys17del)) - ALKBH8_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.146A>G r.(?) p.(Asn49Ser) Unknown - likely benign g.107427713T>C - ALKBH8(NM_138775.3):c.146A>G (p.(Asn49Ser)) - ALKBH8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.148G>A r.(?) p.(Gly50Ser) Unknown - VUS g.107427711C>T - ALKBH8(NM_138775.3):c.148G>A (p.(Gly50Ser)) - ALKBH8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.237C>G r.(?) p.(Asn79Lys) Unknown - VUS g.107427622G>C g.107556896G>C ALKBH8(NM_138775.2):c.237C>G (p.(Asn79Lys)) - ALKBH8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.886T>G r.(?) p.(Cys296Gly) Unknown - VUS g.107396311A>C g.107525585A>C ALKBH8(NM_138775.2):c.886T>G (p.(Cys296Gly)) - ALKBH8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.899A>G r.(?) p.(Asp300Gly) Unknown - VUS g.107396298T>C - ALKBH8(NM_138775.3):c.899A>G (p.(Asp300Gly)) - ALKBH8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.908A>G r.(?) p.(Gln303Arg) Unknown - VUS g.107396289T>C - ALKBH8(NM_138775.2):c.908A>G (p.Q303R) - ALKBH8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.983G>A r.(?) p.(Arg328Gln) Unknown - VUS g.107396214C>T - ALKBH8(NM_138775.3):c.983G>A (p.(Arg328Gln)) - ALKBH8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1044C>T r.(?) p.(Val348=) Unknown - likely benign g.107393268G>A - ALKBH8(NM_138775.2):c.1044C>T (p.V348=) - ALKBH8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1333A>T r.(?) p.(Arg445Trp) Unknown - VUS g.107381717T>A - ALKBH8(NM_138775.3):c.1333A>T (p.(Arg445Trp)) - ALKBH8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1432A>G r.(?) p.(Thr478Ala) Unknown - likely benign g.107381618T>C - ALKBH8(NM_138775.3):c.1432A>G (p.(Thr478Ala)) - ALKBH8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1442G>A r.(?) p.(Arg481His) Unknown - VUS g.107375937C>T - ALKBH8(NM_138775.3):c.1442G>A (p.(Arg481His)) - ALKBH8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1486G>C r.(?) p.(Gly496Arg) Unknown - VUS g.107375893C>G - ALKBH8(NM_138775.3):c.1486G>C (p.(Gly496Arg)) - ALKBH8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1511G>C r.(?) p.(Trp504Ser) Both (homozygous) ACMG likely pathogenic (recessive) g.107375868C>G g.107505142C>G - - ALKBH8_000017 - PubMed: Waqas 2022, Journal: Waqas 2022 - - Germline - - - - - DNA SEQ-NG-IT - - ? FamPatIV1 PubMed: Waqas 2022, Journal: Waqas 2022 4-generation family, 1 affected, unaffected heterozygous carrier parents F - Pakistan - - - - - 1 Muhammad Umair
+/. - c.1651C>T r.(?) p.(Arg551*) Both (homozygous) - pathogenic (recessive) g.107375728G>A g.107505002G>A M_001301010.1:c.1660C>T - ALKBH8_000003 - PubMed: Monies 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ID Family 1 PubMed: Monies 2019 4-generation family, 3 affected (2 brothers/sister), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - 3 Johan den Dunnen
+/. - c.1675del r.(?) p.(Arg559AlafsTer56) Both (homozygous) - pathogenic (recessive) g.107375708del g.107504982del NM_001301010.1:c.1684delC - ALKBH8_000018 - PubMed: Saad 2021 - - Germline yes - - - - DNA SEQ-NG - WES ID FamPatBAB13277 PubMed: Saad 2021 2-generation family, affected sister/brother, unaffected heterozygous carrier parents M - Egypt - - - - - 2 Johan den Dunnen
?/. - c.1769A>G r.(?) p.(Gln590Arg) Unknown - VUS g.107375610T>C - ALKBH8(NM_138775.3):c.1769A>G (p.(Gln590Arg)) - ALKBH8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1785del r.(?) p.(Trp596Glyfs*19) Both (homozygous) - pathogenic (recessive) g.107375596del g.107504870del NM_001301010.1:c.1794delC - ALKBH8_000004 - PubMed: Monies 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ID Family 2 PubMed: Monies 2019 5-generation family, 4 affected brothers, unaffected heterozygous carrier parents/relatives M yes Saudi Arabia - - - - - 4 Johan den Dunnen
+/. - c.1874G>A r.(?) p.(Arg625His) Both (homozygous) - pathogenic (recessive) g.107375505C>T g.107504779C>T - - ALKBH8_000019 - PubMed: Maddirevula 2022 - - Germline yes - - - - RNA SEQ-NG - WES ID FamPatII2/3 PubMed: Maddirevula 2022 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Yemen - - - - - 2 Johan den Dunnen
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