Full data view for gene SLCO2A1

Information The variants shown are described using the NM_005630.2 transcript reference sequence.

70 entries on 1 page. Showing entries 1 - 70.
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Effect     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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Technique     

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Disease     

ID_report     

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-/. - c.-143A>G r.(?) p.(=) Unknown - benign g.133748789T>C g.134029945T>C - - SLCO2A1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.34G>A r.(?) p.(Gly12Ser) Unknown - likely benign g.133748613C>T g.134029769C>T SLCO2A1(NM_005630.2):c.34G>A (p.G12S) - SLCO2A1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.77C>T r.(?) p.(Ser26Leu) Unknown - likely benign g.133748570G>A g.134029726G>A SLCO2A1(NM_005630.2):c.77C>T (p.(Ser26Leu)) - SLCO2A1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1i c.97-1G>A r.97_234del p.Val33_Glu78del Paternal (confirmed) - pathogenic g.133698463C>T g.133979619C>T - - SLCO2A1_000004 - PubMed: Zhang 2012 - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - PubMed: Zhang 2012 4-generation family, 1 affected M yes China Chinese, Han - 0 - - 1 Johan den Dunnen
+/. 1i c.97-1G>A r.97_234del p.Val33_Glu78del Maternal (confirmed) - pathogenic g.133698463C>T g.133979619C>T - - SLCO2A1_000004 - PubMed: Zhang 2012 - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - PubMed: Zhang 2012 4-generation family, 1 affected M yes China Chinese, Han - 0 - - 1 Johan den Dunnen
+/. 1i c.97-1G>A r.97_234del p.Val33_Glu78del Parent #1 - pathogenic g.133698463C>T g.133979619C>T - - SLCO2A1_000004 - PubMed: Zhang 2012 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Zhang 2012 4-generation family, 6 unaffected carriers - yes China Chinese, Han - 0 - - 6 Johan den Dunnen
-/. - c.210G>A r.(?) p.(Ser70=) Unknown - benign g.133698349C>T g.133979505C>T - - SLCO2A1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.234G>A r.(?) p.(Glu78=) Unknown - VUS g.133698325C>T - SLCO2A1(NM_005630.2):c.234G>A (p.E78=) - SLCO2A1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.253A>T r.(?) p.(I85F) Both (homozygous) - VUS g.133692651T>A g.133973807T>A - - SLCO2A1_000016 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - - - - North African - 0 - - 1 Ian Carr
+/. 5 c.253A>T r.(?) p.(I85F) Both (homozygous) - pathogenic g.133692651T>A g.133973807T>A - - SLCO2A1_000016 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - - - Afghanistan North African - 0 - - 1 Ian Carr
+/. 5 c.253A>T r.(?) p.(I85F) Both (homozygous) - pathogenic g.133692651T>A g.133973807T>A - - SLCO2A1_000016 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - Asymptomatic aged 19y F - - North African - 0 - - 1 Ian Carr
?/. - c.280C>T r.(?) p.(Arg94Trp) Unknown - VUS g.133692624G>A g.133973780G>A SLCO2A1(NM_005630.3):c.280C>T (p.R94W) - SLCO2A1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.290G>A r.(?) p.(R97H) Unknown - pathogenic g.133692614C>T g.133973770C>T - - SLCO2A1_000014 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - - - France - - 0 - - 1 Ian Carr
?/. - c.290G>A r.(?) p.(Arg97His) Unknown - VUS g.133692614C>T g.133973770C>T - - SLCO2A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.310C>T r.(?) p.(G104*) Both (homozygous) - pathogenic g.133692594G>A g.133973750G>A - - SLCO2A1_000020 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - - - Italy - - 0 - - 1 Ian Carr
-/. - c.397+10T>C r.(=) p.(=) Unknown - benign g.133692497A>G g.133973653A>G SLCO2A1(NM_005630.3):c.397+10T>C - SLCO2A1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.397+10T>C r.(=) p.(=) Unknown - benign g.133692497A>G g.133973653A>G SLCO2A1(NM_005630.3):c.397+10T>C - SLCO2A1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.398-7934A>G r.(=) p.(=) Both (homozygous) - VUS g.133681971T>C g.133963127T>C - - SLCO2A1_000024 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. 4 c.542G>A r.(?) p.(G181D) Both (homozygous) - pathogenic g.133673893C>T g.133955049C>T - - SLCO2A1_000022 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - - - Turkey - - 0 - - 1 Ian Carr
+/. 13 c.542G>C r.(?) p.(G181A) Both (homozygous) - pathogenic g.133673893C>G g.133955049C>G - - SLCO2A1_000012 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - - - Turkey - - 0 - - 1 Ian Carr
-?/. - c.546C>T r.(?) p.(Ile182=) Unknown - likely benign g.133673889G>A g.133955045G>A SLCO2A1(NM_005630.2):c.546C>T (p.I182=) - SLCO2A1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.611C>T r.(?) p.(S204L) Both (homozygous) - pathogenic g.133673824G>A g.133954980G>A - - SLCO2A1_000023 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - - - Italy - - 0 - - 1 Ian Carr
?/. - c.611C>T r.(?) p.(Ser204Leu) Unknown - VUS g.133673824G>A - SLCO2A1(NM_005630.2):c.611C>T (p.S204L) - SLCO2A1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.664G>A r.(?) p.(Gly222Arg) Paternal (confirmed) - pathogenic g.133672567C>T g.133953723C>T - - SLCO2A1_000007 - PubMed: Zhang 2012 - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - PubMed: Zhang 2012 3-generation family, 1 affected, carrier parents M - China Chinese, Han - 0 - - 1 Johan den Dunnen
+/. 5 c.664G>A r.(?) p.(Gly222Arg) Parent #1 - pathogenic g.133672567C>T g.133953723C>T - - SLCO2A1_000007 - PubMed: Zhang 2012 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Zhang 2012 unaffected father 22197487-Fam3-III1 M - China Chinese, Han - 0 - - 1 Johan den Dunnen
+/. 6 c.724+1G>T r.spl p.? Both (homozygous) - pathogenic g.133672506C>A g.133953662C>A - - SLCO2A1_000021 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - Onset 14y. - - Algeria - - 0 - - 1 Ian Carr
+/. 6 c.754C>T r.(?) p.(Arg252*) Parent #1 - pathogenic g.133670159G>A g.133951315G>A - - SLCO2A1_000003 - - - - Germline - - - 0 - DNA SEQ - - Digital clubbing, isolated congenital - - unaffected carrier relative (Fam3-I:1) M - Netherlands Caucasian - 0 - - 2 Jirko Kühnisch
+/. 6 c.764G>A r.(?) p.(Gly255Glu) Maternal (confirmed) - pathogenic g.133670149C>T g.133951305C>T - - SLCO2A1_000005 - PubMed: Zhang 2012 - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - PubMed: Zhang 2012 4-generation family, 1 affected M - China Chinese, Han - 0 - - 1 Johan den Dunnen
+/. 6 c.764G>A r.(?) p.(Gly255Glu) Parent #1 - pathogenic g.133670149C>T g.133951305C>T - - SLCO2A1_000005 - PubMed: Zhang 2012 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Zhang 2012 4-generation family, unaffected carriers Fam2-I3/II5/II8 - - China Chinese, Han - 0 - - 3 Johan den Dunnen
+/. 6 c.830dup r.(?) p.(Phe278LeufsTer18) Paternal (inferred) - pathogenic g.133670090dup g.133951246dup 830_831insT - SLCO2A1_000001 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - M - Turkey Turkish - 0 - - 1 Jirko Kühnisch
+/. 6 c.830dup r.(?) p.(Phe278LeufsTer18) Maternal (inferred) - pathogenic g.133670090dup g.133951246dup 830_831insT - SLCO2A1_000001 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - M - Turkey Turkish - 0 - - 1 Jirko Kühnisch
+/. 6 c.830dup r.(?) p.(Phe278LeufsTer18) Parent #1 - pathogenic g.133670090dup g.133951246dup 830_831insT - SLCO2A1_000001 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - M - Turkey Turkish - 0 - - 1 Jirko Kühnisch
+/. 6 c.830dup r.(?) p.(Phe278LeufsTer18) Parent #2 - pathogenic g.133670090dup g.133951246dup 830_831insT - SLCO2A1_000001 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - M - Turkey Turkish - 0 - - 1 Jirko Kühnisch
+/. 6 c.830dup r.(?) p.(Phe278LeufsTer18) Parent #1 - pathogenic g.133670090dup g.133951246dup 830_831insT - SLCO2A1_000001 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - M - Turkey Turkish - 0 - - 1 Jirko Kühnisch
+/. 6 c.830dup r.(?) p.(Phe278LeufsTer18) Parent #2 - pathogenic g.133670090dup g.133951246dup 830_831insT - SLCO2A1_000001 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - M - Turkey Turkish - 0 - - 1 Jirko Kühnisch
+/. 6 c.830dup r.(?) p.(Phe278LeufsTer18) Parent #1 - pathogenic g.133670090dup g.133951246dup 830_831insT - SLCO2A1_000001 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - M - Turkey Turkish - 0 - - 1 Jirko Kühnisch
+/. 6 c.830dup r.(?) p.(Phe278LeufsTer18) Parent #1 - pathogenic g.133670090dup g.133951246dup 830_831insT - SLCO2A1_000001 - - - - Germline - - - 0 - DNA SEQ - - ? - - 5 unaffected carrier relatives Fam1-IV:7/V:1/V:4/V:6/V:7 - - Turkey Turkish - 0 - - 5 Jirko Kühnisch
+/. 6 c.838C>T r.(?) p.(R280*) Unknown - pathogenic g.133670075G>A g.133951231G>A - - SLCO2A1_000019 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - - - - Kabardin (Caucasus) - 0 - - 1 Ian Carr
+/. 6 c.838C>T r.(?) p.(R280*) Unknown - pathogenic g.133670075G>A g.133951231G>A - - SLCO2A1_000019 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - - - - Kabardin (Caucasus) - 0 - - 1 Ian Carr
-/. - c.840A>G r.(?) p.(Arg280=) Unknown - benign g.133670073T>C g.133951229T>C - - SLCO2A1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.904G>C r.(?) p.(Ala302Pro) Unknown - likely benign g.133667773C>G g.133948929C>G SLCO2A1(NM_005630.2):c.904G>C (p.A302P) - SLCO2A1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.940C>T r.(?) p.(Arg314Trp) Unknown - VUS g.133667737G>A - SLCO2A1(NM_005630.2):c.940C>T (p.R314W) - SLCO2A1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7i c.940+1G>A r.spl p.? Maternal (confirmed) - pathogenic g.133667736C>T g.133948892C>T - - SLCO2A1_000008 - PubMed: Zhang 2012 - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - PubMed: Zhang 2012 3-generation family, 1 affected, carrier parents M - China Chinese, Han - 0 - - 1 Johan den Dunnen
+/. 7i c.940+1G>A r.spl p.? Parent #1 - pathogenic g.133667736C>T g.133948892C>T - - SLCO2A1_000008 - PubMed: Zhang 2012 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Zhang 2012 unaffected mother 22197487-Fam3-III1 F - China Chinese, Han - 0 - - 1 Johan den Dunnen
+?/. 7 c.940+2T>A r.spl p.? Unknown - likely pathogenic g.133667735A>T g.133948891A>T - - SLCO2A1_000015 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - - - France - - 0 - - 1 Ian Carr
+/. 7 c.941-1G>A r.spl p.? Unknown - pathogenic g.133667545C>T g.133948701C>T - - SLCO2A1_000010 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - - - (China) - - 0 - - 1 Ian Carr
+/. 8 c.1105+4A>G r.spl? p.? Both (homozygous) - pathogenic g.133667376T>C g.133948532T>C - - SLCO2A1_000017 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - - - Netherlands - - 0 - - 1 Ian Carr
-/. - c.1186G>A r.(?) p.(Ala396Thr) Unknown - benign g.133666209C>T g.133947365C>T - - SLCO2A1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 9 c.1259G>T r.(?) p.(C420F) Unknown - VUS g.133666136C>A g.133947292C>A - - SLCO2A1_000009 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - - - Colombia - - 0 - - 1 Ian Carr
+/. 9 c.1259G>T r.(?) p.(C420F) Unknown - pathogenic g.133666136C>A g.133947292C>A - - SLCO2A1_000009 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - Myelofibrosis - - Colombia - - 0 - - 1 Ian Carr
+/. 9 c.1259G>T r.(?) p.(C420F) Unknown - pathogenic g.133666136C>A g.133947292C>A - - SLCO2A1_000009 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - - - Colombia - - 0 - - 1 Ian Carr
+/. 9 c.1259G>T r.(?) p.(C420F) Unknown - pathogenic g.133666136C>A g.133947292C>A - - SLCO2A1_000009 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - - - Colombia - - 0 - - 1 Ian Carr
+/. 9 c.1259G>T r.(?) p.(C420F) Unknown - pathogenic g.133666136C>A g.133947292C>A - - SLCO2A1_000009 - - - - Germline - - - 0 - DNA SEQ - - ? - - - F - Colombia - - 0 - - 1 Ian Carr
-?/. - c.1288C>T r.(?) p.(Pro430Ser) Unknown - likely benign g.133666107G>A - SLCO2A1(NM_005630.2):c.1288C>T (p.P430S) - SLCO2A1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.1333C>T r.(?) p.(R445C) Unknown - VUS g.133664067G>A g.133945223G>A - - SLCO2A1_000013 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - - - Netherlands - - 0 - - 1 Ian Carr
?/. - c.1378G>A r.(?) p.(Gly460Arg) Unknown - VUS g.133664022C>T g.133945178C>T SLCO2A1(NM_005630.2):c.1378G>A (p.G460R) - SLCO2A1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1497C>T r.(?) p.(Ser499=) Unknown - likely benign g.133661577G>A - SLCO2A1(NM_005630.2):c.1497C>T (p.S499=) - SLCO2A1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1517C>A r.(?) p.(S306*) Unknown - pathogenic g.133661557G>T g.133942713G>T - - SLCO2A1_000011 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - - - (China) - - 0 - - 1 Ian Carr
+/. 12 c.1634del r.(?) p.(Asn545Thrfs*15) Paternal (confirmed) - pathogenic g.133657330del g.133938486del - - SLCO2A1_000006 - PubMed: Zhang 2012 - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - PubMed: Zhang 2012 4-generation family, 1 affected M - China Chinese, Han - 0 - - 1 Johan den Dunnen
+/. 12 c.1634del r.(?) p.(Asn545Thrfs*15) Parent #1 - pathogenic g.133657330del g.133938486del - - SLCO2A1_000006 - PubMed: Zhang 2012 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Zhang 2012 4-generation family, unaffected carriers Fam2-II2/II7 - - China Chinese, Han - 0 - - 2 Johan den Dunnen
?/. - c.1660G>A r.(?) p.(Gly554Arg) Unknown - VUS g.133657303C>T g.133938459C>T - - SLCO2A1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.1670T>C r.(?) p.(Phe557Ser) Paternal (inferred) - pathogenic g.133657293A>G g.133938449A>G - - SLCO2A1_000002 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - M - Turkey Turkish - 0 - - 1 Jirko Kühnisch
+/. 12 c.1670T>C r.(?) p.(Phe557Ser) Maternal (inferred) - pathogenic g.133657293A>G g.133938449A>G - - SLCO2A1_000002 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - M - Turkey Turkish - 0 - - 1 Jirko Kühnisch
+/. 12 c.1670T>C r.(?) p.(Phe557Ser) Parent #1 - pathogenic g.133657293A>G g.133938449A>G - - SLCO2A1_000002 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - unaffected carrier relative (Fam2-II:5) M - Iraq - - 0 - - 1 Jirko Kühnisch
+/. 12 c.1670T>C r.(?) p.(Phe557Ser) Parent #2 - pathogenic g.133657293A>G g.133938449A>G - - SLCO2A1_000002 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - unaffected carrier relative (Fam2-II:5) M - Iraq - - 0 - - 1 Jirko Kühnisch
+/. 12 c.1670T>C r.(?) p.(Phe557Ser) Parent #1 - pathogenic g.133657293A>G g.133938449A>G - - SLCO2A1_000002 - - - - Germline - - - 0 - DNA SEQ - - ? - - unaffected carrier relative of Fam2-II:6 - - Iraq - - 0 - - 1 Jirko Kühnisch
+/. 13 c.1693T>G r.(?) p.(W565G) Unknown - pathogenic g.133654739A>C g.133935895A>C - - SLCO2A1_000018 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - - - - Kabardin (Caucasus) - 0 - - 1 Ian Carr
+/. 13 c.1693T>G r.(?) p.(W565G) Unknown - pathogenic g.133654739A>C g.133935895A>C - - SLCO2A1_000018 - - - - Germline - - - 0 - DNA SEQ - - PHOAR-2 - - - - - - Kabardin (Caucasus) - 0 - - 1 Ian Carr
-?/. - c.1745G>A r.(?) p.(Arg582Gln) Unknown - likely benign g.133654687C>T g.133935843C>T SLCO2A1(NM_005630.2):c.1745G>A (p.(Arg582Gln)) - SLCO2A1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1837T>C r.(?) p.(Tyr613His) Unknown - VUS g.133653652A>G g.133934808A>G SLCO2A1(NM_005630.2):c.1837T>C (p.Y613H) - SLCO2A1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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