Full data view for gene AGTPBP1

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

36 entries on 1 page. Showing entries 1 - 36.
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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.-206G>A r.(?) p.(=) Unknown - VUS g.88356862C>T g.85741947C>T AGTPBP1(NM_001286715.1):c.16G>A (p.A6T) - AGTPBP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-206G>T r.(?) p.(=) Unknown - VUS g.88356862C>A - AGTPBP1(NM_001286715.1):c.16G>T (p.(Ala6Ser)) - AGTPBP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-200_-186del r.(?) p.(=) Unknown - VUS g.88356850_88356864del - AGTPBP1(NM_001286715.1):c.22_36del (p.(Ser8_Ala12del)) - AGTPBP1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-183_-172del r.(?) p.(=) Unknown - VUS g.88356836_88356847del - AGTPBP1(NM_001286715.1):c.39_50del (p.(Ala16_Ala19del)) - AGTPBP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-170_-165dup r.(?) p.(=) Unknown - benign g.88356830_88356835dup - AGTPBP1(NM_001286715.1):c.52_57dupGCCGCC (p.A18_A19dup), AGTPBP1(NM_001286717.1):c.52_57dupGCCGCC (p.(Ala18_Ala19dup)) - AGTPBP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-170_-165dup r.(?) p.(=) Unknown - likely benign g.88356830_88356835dup - AGTPBP1(NM_001286715.1):c.52_57dupGCCGCC (p.A18_A19dup), AGTPBP1(NM_001286717.1):c.52_57dupGCCGCC (p.(Ala18_Ala19dup)) - AGTPBP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-116C>A r.(?) p.(=) Unknown - likely benign g.88356772G>T - AGTPBP1(NM_001286715.1):c.106C>A (p.R36=) - AGTPBP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-107A>C r.(?) p.(=) Unknown - VUS g.88356763T>G - AGTPBP1(NM_001286715.1):c.115A>C (p.(Ile39Leu)) - AGTPBP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-66del r.(?) p.(=) Unknown - VUS g.88356722del - AGTPBP1(NM_001286715.1):c.156del (p.(Arg53AlafsTer9)) - AGTPBP1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.41A>G r.(?) p.(Asn14Ser) Unknown - VUS g.88307720T>C - AGTPBP1(NM_001330701.1):c.41A>G (p.N14S) - AGTPBP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.290-10dup r.(=) p.(=) Unknown - benign g.88292520dup - AGTPBP1(NM_001330701.1):c.290-10dupT - AGTPBP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.367A>G r.(?) p.(Lys123Glu) Unknown - VUS g.88292420T>C - AGTPBP1(NM_001330701.2):c.367A>G (p.(Lys123Glu)) - AGTPBP1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.377C>A r.(?) p.(Pro126His) Unknown - likely benign g.88292410G>T g.85677495G>T AGTPBP1(NM_001286715.1):c.533C>A (p.P178H), AGTPBP1(NM_001330701.2):c.377C>A (p.(Pro126His)) - AGTPBP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.377C>A r.(?) p.(Pro126His) Unknown - VUS g.88292410G>T - AGTPBP1(NM_001286715.1):c.533C>A (p.P178H), AGTPBP1(NM_001330701.2):c.377C>A (p.(Pro126His)) - AGTPBP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.394A>G r.(?) p.(Met132Val) Unknown - likely benign g.88292393T>C - AGTPBP1(NM_001330701.1):c.394A>G (p.M132V) - AGTPBP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.437-7dup r.(=) p.(=) Unknown - likely benign g.88287614dup - AGTPBP1(NM_001330701.2):c.437-7dup - AGTPBP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.518A>T r.(?) p.(His173Leu) Unknown - likely benign g.88287515T>A - AGTPBP1(NM_001330701.1):c.518A>T (p.H173L) - AGTPBP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.569-8C>T r.(=) p.(=) Unknown - likely benign g.88284501G>A - AGTPBP1(NM_001330701.1):c.569-8C>T - AGTPBP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.664G>A r.(?) p.(Val222Ile) Unknown - VUS g.88275887C>T - AGTPBP1(NM_001330701.2):c.664G>A (p.(Val222Ile)) - AGTPBP1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.820_821del r.(?) p.(Gln274GlufsTer17) Both (homozygous) ACMG pathogenic (recessive) g.88272439_88272440del g.85657524_85657525del 820_821delCA - AGTPBP1_000017 ACMG PVS1, PM2, PP3, PP4 PubMed: Kritioti 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat15 PubMed: Kritioti 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Cyprus Greece - - - - 1 Johan den Dunnen
-?/. - c.910-103G>A r.(=) p.(=) Unknown - likely benign g.88270218C>T - AGTPBP1(NM_001286715.1):c.1083G>A (p.R361=) - AGTPBP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1327T>G r.(?) p.(Ser443Ala) Unknown - likely benign g.88248145A>C - AGTPBP1(NM_001330701.1):c.1447T>G (p.S483A) - AGTPBP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1443A>G r.(?) p.(Ser481=) Unknown - likely benign g.88248029T>C - AGTPBP1(NM_001330701.1):c.1563A>G (p.S521=) - AGTPBP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1534G>A r.(?) p.(Ala512Thr) Both (homozygous) other likely pathogenic g.88247938C>T - - - AGTPBP1_000022 - - - rs1375829417 Germline yes - - - - DNA SEQ-NG Blood WES CONDCA - - - M yes Egypt - - - - - 1 Alaaeldin Fayez
-?/. - c.1725G>A r.(?) p.(Ser575=) Unknown - likely benign g.88247747C>T - AGTPBP1(NM_015239.2):c.1725G>A (p.S575=) - AGTPBP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1960T>G r.(?) p.(Tyr654Asp) Unknown - VUS g.88236136A>C g.85621221A>C - - AGTPBP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2045G>A r.(?) p.(Arg682His) Unknown - VUS g.88234151C>T - AGTPBP1(NM_001286715.1):c.2321G>A (p.R774H) - AGTPBP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2530G>A r.(?) p.(Gly844Arg) Both (homozygous) other likely pathogenic g.88204515C>T g.85589600C>T - - AGTPBP1_000021 - - - - Germline - - - - - DNA SEQ-NG Blood WES CONDCA - - - M yes Egypt - - - - - 1 Alaaeldin Fayez
-?/. - c.2602+9G>A r.(=) p.(=) Unknown - likely benign g.88204434C>T - AGTPBP1(NM_001330701.2):c.2722+9G>A - AGTPBP1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2632C>T r.(?) p.(Arg878Trp) Unknown - VUS g.88203364G>A g.85588449G>A - - AGTPBP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2632C>T r.(?) p.(Arg878Trp) Both (homozygous) ACMG VUS g.88203364G>A g.85588449G>A - - AGTPBP1_000003 ACMG PM2, PP3 PubMed: Maddirevula 20198 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? 18DG0160 PubMed: Maddirevula 20198 - - - - - - - - - 1 Johan den Dunnen
?/. - c.2704C>T r.(?) p.(Pro902Ser) Unknown - VUS g.88203292G>A g.85588377G>A AGTPBP1(NM_001286715.1):c.2980C>T (p.P994S), AGTPBP1(NM_001330701.2):c.2824C>T (p.(Pro942Ser)) - AGTPBP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2704C>T r.(?) p.(Pro902Ser) Unknown - VUS g.88203292G>A - AGTPBP1(NM_001286715.1):c.2980C>T (p.P994S), AGTPBP1(NM_001330701.2):c.2824C>T (p.(Pro942Ser)) - AGTPBP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2903G>A r.(?) p.(Arg968His) Unknown - VUS g.88201756C>T - AGTPBP1(NM_001330701.2):c.3023G>A (p.(Arg1008His)) - AGTPBP1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3056A>G r.(?) p.(Lys1019Arg) Unknown - VUS g.88194001T>C - AGTPBP1(NM_015239.2):c.3056A>G (p.K1019R) - AGTPBP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3086G>T r.(?) p.(Cys1029Phe) Unknown - VUS g.88193971C>A - AGTPBP1(NM_001330701.2):c.3206G>T (p.(Cys1069Phe)) - AGTPBP1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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