Full data view for gene ABAT

Information The variants shown are described using the NM_020686.5 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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.19G>A r.(?) p.(Ala7Thr) Unknown - VUS g.8829615G>A - ABAT(NM_020686.6):c.19G>A (p.(Ala7Thr)) - ABAT_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.25C>T r.(?) p.(Arg9Cys) Unknown - VUS g.8829621C>T - ABAT(NM_020686.6):c.25C>T (p.(Arg9Cys)) - ABAT_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.30G>A r.(?) p.(Leu10=) Unknown - likely benign g.8829626G>A g.8735769G>A ABAT(NM_000663.4):c.30G>A (p.L10=), ABAT(NM_020686.6):c.30G>A (p.L10=) - ABAT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.30G>A r.(?) p.(Leu10=) Unknown - likely benign g.8829626G>A - ABAT(NM_000663.4):c.30G>A (p.L10=), ABAT(NM_020686.6):c.30G>A (p.L10=) - ABAT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.167A>G r.(?) p.(Gln56Arg) Unknown - benign g.8839954A>G g.8746097A>G ABAT(NM_000663.5):c.167A>G (p.Q56R) - ABAT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.168+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.8839956G>A g.8746099G>A - - ABAT_000018 - PubMed: Poli 2024 635252 - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat48 PubMed: Poli 2024 - M - Chile - - - - - 1 Johan den Dunnen
-/. - c.169-5T>C r.spl? p.? Unknown - benign g.8841960T>C g.8748103T>C ABAT(NM_000663.5):c.169-5T>C - ABAT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.267C>T r.(?) p.(Asp89=) Unknown - likely benign g.8844347C>T - ABAT(NM_000663.4):c.267C>T (p.D89=) - ABAT_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.275G>A r.(?) p.(Arg92Gln) Parent #1 - pathogenic g.8844355G>A g.8750498G>A - - ABAT_000008 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs724159992 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.275G>A r.(?) p.(Arg92Gln) Unknown - pathogenic g.8844355G>A - ABAT(NM_000663.4):c.275G>A (p.R92Q) - ABAT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.448-15T>A r.(=) p.(=) Unknown - benign g.8858580T>A g.8764723T>A ABAT(NM_000663.5):c.448-15T>A - ABAT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540+32_540+35dup r.(=) p.(=) Unknown - likely benign g.8858719_8858722dup - ABAT(NM_020686.6):c.540+32_540+35dupCACA - ABAT_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540+34_540+35dup r.(=) p.(=) Unknown - likely benign g.8858721_8858722dup - ABAT(NM_020686.6):c.540+34_540+35dupCA - ABAT_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.631C>T r.(?) p.(Leu211Phe) Both (homozygous) ACMG pathogenic (recessive) g.8862077C>T g.8768220C>T - - ABAT_000015 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8700022 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes - Zaboli - - - - 2 Johan den Dunnen
-?/. - c.641T>C r.(?) p.(Met214Thr) Unknown - likely benign g.8862087T>C - ABAT(NM_020686.6):c.641T>C (p.M214T) - ABAT_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.684G>A r.(?) p.(Thr228=) Unknown - benign g.8862698G>A - ABAT(NM_020686.6):c.684G>A (p.T228=) - ABAT_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.709G>A r.(?) p.(Asp237Asn) Both (homozygous) ACMG likely pathogenic g.8862723G>A g.8768866G>A - - ABAT_000013 ACMG PM1, PM2, PP2, PP3 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - 758-gene panel ID 13DG1093 PubMed: Anazi 2017 simplex case M yes Saudi Arabia - - - - - 1 Johan den Dunnen
?/. - c.740C>T r.(?) p.(Pro247Leu) Unknown - VUS g.8862754C>T - ABAT(NM_020686.6):c.740C>T (p.(Pro247Leu)) - ABAT_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.841C>G r.(?) p.(Arg281Gly) Unknown - VUS g.8866661C>G - ABAT(NM_020686.6):c.841C>G (p.(Arg281Gly)) - ABAT_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.984C>A r.(?) p.(Val328=) Unknown - benign g.8868776C>A g.8774919C>A ABAT(NM_000663.5):c.984C>A (p.V328=) - ABAT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1001G>A r.(?) p.(Cys334Tyr) Unknown - VUS g.8868793G>A - ABAT(NM_000663.4):c.1001G>A (p.C334Y) - ABAT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1130G>A r.(?) p.(Arg377Gln) Unknown - VUS g.8870208G>A g.8776351G>A ABAT(NM_000663.4):c.1130G>A (p.R377Q) - ABAT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1439T>G r.(?) p.(Phe480Cys) Both (homozygous) - VUS g.8875223T>G g.8781366T>G - - ABAT_000021 - Journal: Paracha 2024 - - Germline yes - - - - DNA SEQ-NG, SEQ - WES NDD Fam5 Journal: Paracha 2024 4-generation family, 2 affected sisters,, heterozygous carrier parents/relatives F yes Pakistan - - - - - 2 Muhammad Umair
-?/. - c.*1210T>C r.(=) p.(=) Parent #1 - likely benign g.8876497T>C g.8782640T>C - - ABAT_000009 170 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17674530 Germline - 170/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 170 Mohammed Faruq
-?/. - c.*1210T>C r.(=) p.(=) Both (homozygous) - likely benign g.8876497T>C g.8782640T>C - - ABAT_000009 9 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17674530 Germline - 9/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
-?/. - c.*1501A>G r.(=) p.(=) Parent #1 - likely benign g.8876788A>G g.8782931A>G - - ABAT_000010 233 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17651562 Germline - 233/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 233 Mohammed Faruq
-?/. - c.*1501A>G r.(=) p.(=) Both (homozygous) - likely benign g.8876788A>G g.8782931A>G - - ABAT_000010 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17651562 Germline - 3/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/. - c.*2986T>C r.(=) p.(=) Parent #1 - VUS g.8878273T>C g.8784416T>C - - ABAT_000011 20 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79763179 Germline - 20/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 20 Mohammed Faruq
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