Full data view for gene AP1B1

Information The variants shown are described using the NM_001127.3 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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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.-187_38-227del[0] r.0 p.0 Both (homozygous) - pathogenic (recessive) g.29759322_29815475del g.29363333_29419486del g.29758984_29815476del - AP1B1_000003 variant description not clear and due to duplicated sequence/3'rule varies from c.-187_38-227del[0] to c.-187_143+6del[0] PubMed: Alsaif 2019 - - Germline yes - - - - DNA, RNA arraySNP, RT-PCR, SEQ - - ? Fam1PatII1 PubMed: Alsaif 2019 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes United Kingdom (Great Britain) Pakistan - - - - 2 Johan den Dunnen
+/. - c.-187_143+6del[0] r.0 p.0 Both (homozygous) - pathogenic (recessive) g.29759322_29815475del g.29363333_29419486del g.29758984_29815476del - AP1B1_000003 variant description not clear and due to duplicated sequence/3'rule varies from c.-187_38-227del[0] to c.-187_143+6del[0] PubMed: Alsaif 2019 - - Germline yes - - - - DNA, RNA arraySNP, RT-PCR, SEQ - - ? Fam1PatII2 PubMed: Alsaif 2019 - M yes United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+/. - c.38-1G>A r.40del p.Glu14Argfs*5 Both (homozygous) - pathogenic (recessive) g.29759096C>T g.29363107C>T - - AP1B1_000002 - PubMed: Alsaif 2019 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES ? Fam2PatII2 PubMed: Alsaif 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.430T>C r.(?) p.(Cys144Arg) Maternal (confirmed) - pathogenic (recessive) g.29754810A>G g.29358821A>G - - AP1B1_000004 - PubMed: Boyden 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam424 PubMed: Boyden 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Uruguay - - - - - 1 Johan den Dunnen
?/. - c.525+9C>T r.(=) p.(=) Unknown - VUS g.29754706G>A - AP1B1(NM_001127.4):c.525+9C>T - AP1B1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.592G>A r.(?) p.(Asp198Asn) Unknown - VUS g.29752539C>T - AP1B1(NM_001127.4):c.592G>A (p.(Asp198Asn)) - AP1B1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.820T>C r.(?) p.(Leu274=) Unknown - likely benign g.29750757A>G - AP1B1(NM_001127.3):c.820T>C (p.L274=) - AP1B1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.831C>T r.(?) p.(Tyr277=) Unknown - likely benign g.29750746G>A - AP1B1(NM_001127.3):c.831C>T (p.Y277=) - AP1B1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1051A>G r.(?) p.(Ile351Val) Unknown - VUS g.29747702T>C g.29351713T>C - - AP1B1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1087A>G r.(?) p.(Thr363Ala) Unknown - VUS g.29747228T>C - AP1B1(NM_001127.4):c.1087A>G (p.(Thr363Ala)) - AP1B1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1124G>A r.(?) p.(Arg375His) Unknown - VUS g.29747191C>T - AP1B1(NM_001127.4):c.1124G>A (p.(Arg375His)) - AP1B1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1214A>G r.(?) p.(Tyr405Cys) Unknown - VUS g.29746081T>C - AP1B1(NM_001127.4):c.1214A>G (p.(Tyr405Cys)) - AP1B1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1288del r.(?) p.(Ala430ProfsTer19) Unknown - likely pathogenic g.29745356del g.29349367del AP1B1(NM_001127.3):c.1288delG (p.A430Pfs*19) - AP1B1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1470A>G r.(?) p.(Lys490=) Unknown - likely benign g.29738340T>C - AP1B1(NM_001127.3):c.1470A>G (p.K490=) - AP1B1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1684G>A r.(?) p.(Glu562Lys) Unknown - VUS g.29737602C>T - AP1B1(NM_001127.3):c.1684G>A (p.E562K) - AP1B1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1735A>G r.(?) p.(Ser579Gly) Unknown - VUS g.29737551T>C - AP1B1(NM_001127.3):c.1735A>G (p.S579G) - AP1B1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1765G>A r.(?) p.(Val589Met) Unknown - likely benign g.29737521C>T - AP1B1(NM_001127.3):c.1765G>A (p.V589M) - AP1B1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1827C>G r.(?) p.(Ala609=) Unknown - likely benign g.29736816G>C - AP1B1(NM_001127.3):c.1827C>G (p.A609=) - AP1B1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2217C>T r.(?) p.(=) Unknown - likely benign g.29730346G>A - AP1B1(NM_001166019.2):c.2143-7C>T - AP1B1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2218C>T r.(?) p.(Arg740Cys) Unknown - VUS g.29730345G>A - AP1B1(NM_001127.4):c.2218C>T (p.(Arg740Cys)) - AP1B1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2307C>G r.(?) p.(Asn769Lys) Unknown - VUS g.29730256G>C - AP1B1(NM_001127.4):c.2307C>G (p.(Asn769Lys)) - AP1B1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2307C>G r.(?) p.(Asn769Lys) Unknown - VUS g.29730256G>C - AP1B1(NM_001127.4):c.2307C>G (p.(Asn769Lys)) - AP1B1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2309+9T>C r.(=) p.(=) Unknown - likely benign g.29730245A>G - AP1B1(NM_001127.4):c.2309+9T>C - AP1B1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2335del r.(?) p.(Leu779Serfs*26) Paternal (confirmed) - pathogenic (recessive) g.29727885del g.29331896del 2335delC - AP1B1_000005 - PubMed: Boyden 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam424 PubMed: Boyden 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Uruguay - - - - - 1 Johan den Dunnen
+/. - c.2374G>T r.(?) p.(Glu792*) Both (homozygous) - pathogenic (recessive) g.29727841C>A g.29331852C>A - - AP1B1_000006 - PubMed: Boyden 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam1325 PubMed: Boyden 2019 6-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes (United States) - - - - - 1 Johan den Dunnen
-?/. - c.2525-7C>T r.(=) p.(=) Unknown - likely benign g.29726705G>A - AP1B1(NM_001127.3):c.2525-7C>T - AP1B1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2711A>G r.(?) p.(Asn904Ser) Unknown - VUS g.29726422T>C - NM_145730:c.A2690G (N897S) - AP1B1_000018 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSC0022 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
?/. - c.2738G>A r.(?) p.(Arg913Gln) Unknown - VUS g.29726395C>T - AP1B1(NM_001127.3):c.2738G>A (p.R913Q), AP1B1(NM_001127.4):c.2738G>A (p.(Arg913Gln)) - AP1B1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2738G>A r.(?) p.(Arg913Gln) Unknown - VUS g.29726395C>T - AP1B1(NM_001127.3):c.2738G>A (p.R913Q), AP1B1(NM_001127.4):c.2738G>A (p.(Arg913Gln)) - AP1B1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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