Full data view for gene CYP51A1

Information The variants shown are described using the NM_000786.3 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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+?/. - c.695T>C r.(?) p.(Leu232Pro) - Both (homozygous) - likely pathogenic (recessive) g.91755642A>G g.92126328A>G - - CYP51A1_000006 variant in a novel candidate gene PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 16DG0226 PubMed: Patel 2017 5-generation family, 5 affected (2F, M, 2 fetuses), unaffected hetarozygous carrier parents/relatives F;M - - - - - - - 5 Johan den Dunnen
?/. - c.751C>T r.(?) p.(=) - Unknown - VUS g.91755586G>A - CYP51A1(NM_000786.4):c.751C>T (p.(Leu251=)) - CYP51A1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.772C>T r.(?) p.(Arg258Cys) - Parent #1 ACMG VUS g.91753166G>A g.92123852G>A - - CYP51A1_000009 ACMG PM2_sup, PM3, PP3 PubMed: Wang 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat28 PubMed: Wang 2024 patient, no family history F - China - - - - - 1 Johan den Dunnen
+/. - c.829C>T r.(?) p.(Arg277Cys) - Unknown - pathogenic g.91753109G>A - CYP51A1(NM_000786.4):c.829C>T (p.R277C) - CYP51A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.829C>T r.(?) p.(Arg277Cys) - Both (homozygous) - pathogenic (recessive) g.91753109G>A g.92123795G>A - - CYP51A1_000005 candidate disease gene; variant absent in 352 controls PubMed: Aldahmesh 2012 - - Germline - - - - - DNA SEQ - - CTRCT Cata_DGU-16;Fam23 PubMed: Aldahmesh 2012, PubMed: Khan 2015 family, 1 affected, unaffected heterozygous parents - yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.829C>T r.(?) p.(Arg277Cys) - Both (homozygous) - likely pathogenic (recessive) g.91753109G>A g.92123795G>A - - CYP51A1_000005 variant in a novel candidate gene PubMed: Patel 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CTRCT 10DG1249 PubMed: Patel 2017 family - - - - - - - - 2 Johan den Dunnen
+/. 7 c.935T>C r.(?) p.(Ile312Thr) - Parent #1 - pathogenic g.91752585A>G g.92123271A>G - - CYP51A1_000002 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Gillespie 2014, Journal: Gillespie 2014 no family history M no - - - - - - 1 Johan den Dunnen
+?/. - c.955C>T r.(?) p.(Gln319Ter) - Parent #2 ACMG likely pathogenic (recessive) g.91752565G>A g.92123251G>A - - CYP51A1_000008 ACMG PVS1, PM2_sup PubMed: Wang 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Pat28 PubMed: Wang 2024 patient, no family history F - China - - - - - 1 Johan den Dunnen
-?/. - c.1044A>G r.(?) p.(Lys348=) - Unknown - likely benign g.91752476T>C g.92123162T>C CYP51A1(NM_000786.3):c.1044A>G (p.K348=) - CYP51A1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1263G>A r.(?) p.(Trp421*) - Parent #2 - pathogenic g.91746446C>T g.92117132C>T - - CYP51A1_000001 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Gillespie 2014, Journal: Gillespie 2014 no family history M no - - - - - - 1 Johan den Dunnen
+/. - c.1263G>A r.(?) p.(Trp421*) - Unknown - pathogenic g.91746446C>T - CYP51A1(NM_000786.4):c.1263G>A (p.W421*) - CYP51A1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3516A>G r.(=) p.(=) - Unknown - likely benign g.91739463T>C - AKAP9(NM_005751.4):c.11714T>C (p.M3905T) - AKAP9_000346 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5036C>A r.(=) p.(=) - Unknown - VUS g.91737943G>T - AKAP9(NM_005751.5):c.11682G>T (p.Q3894H) - AKAP9_000327 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5073C>T r.(=) p.(=) - Unknown - VUS g.91737906G>A - AKAP9(NM_005751.5):c.11645G>A (p.R3882Q) - AKAP9_000326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5177G>A r.(=) p.(=) - Unknown - likely benign g.91737802C>T - AKAP9(NM_005751.5):c.11547-6C>T - AKAP9_000375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6270A>G r.(=) p.(=) - Unknown - VUS g.91736709T>C g.92107395T>C AKAP9(NM_005751.4):c.11519T>C (p.I3840T), AKAP9(NM_005751.5):c.11519T>C (p.I3840T) - AKAP9_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6270A>G r.(=) p.(=) - Unknown - likely benign g.91736709T>C g.92107395T>C AKAP9(NM_005751.4):c.11519T>C (p.I3840T), AKAP9(NM_005751.5):c.11519T>C (p.I3840T) - AKAP9_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6295G>A r.(=) p.(=) - Unknown - VUS g.91736684C>T g.92107370C>T AKAP9(NM_005751.5):c.11494C>T (p.R3832C) - AKAP9_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6376A>C r.(=) p.(=) - Unknown - benign g.91736603T>G g.92107289T>G AKAP9(NM_005751.5):c.11417-4T>G - AKAP9_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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