Unique variants in the ACE2 gene

Information The variants shown are described using the NM_021804.2 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.22C>T r.(?) p.(Leu8Phe) - VUS g.15619013G>A g.15600890G>A - - ACE2_000042 - - - - Germline - - - - - Alessandra Renieri
-?/., ?/. 3 2 c.77A>G r.(?) p.(Lys26Arg) - likely benign, VUS g.15618958T>C g.15600835T>C ACE2(NM_021804.2):c.77A>G (p.(Lys26Arg)) - ACE2_000001 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - rs4646116 CLASSIFICATION record, Germline - 1/208 cases - - - Johan den Dunnen, VKGL-NL_Leiden, Alessandra Renieri
-?/. 1 - c.94T>C r.(?) p.(Phe32Leu) - likely benign g.15618941A>G - ACE2(NM_021804.2):c.94T>C (p.(Phe32Leu)) - ACE2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 2 c.149A>T r.(?) p.(Tyr50Phe) - VUS g.15618886T>A g.15600763T>A - - ACE2_000005 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Johan den Dunnen
?/. 1 - c.194C>T r.(?) p.(Ala65Val) - VUS g.15613119G>A g.15594996G>A - - ACE2_000041 - - - - Germline - - - - - Alessandra Renieri
?/. 1 - c.275C>T r.(?) p.(Thr92Ile) - VUS g.15613038G>A g.15594915G>A - - ACE2_000040 - - - - Germline - - - - - Alessandra Renieri
?/. 1 - c.305A>C r.(?) p.(Gln102Pro) - VUS g.15613008T>G g.15594885T>G - - ACE2_000039 - - - rs1395878099 Germline - - - - - Alessandra Renieri
?/. 1 - c.385del r.(?) p.(Thr129Leufs*20) - VUS g.15610405del g.15592283del - - ACE2_000038 1 more item - - - Germline - - - - - Alessandra Renieri
?/. 1 - c.533del r.(?) p.(Pro178Hisfs*9) - VUS g.15609885del g.15591763del - - ACE2_000037 1 more item - - - Germline - - - - - Alessandra Renieri
-?/. 2 5i c.584-71A>G r.(?) p.(=) - likely benign g.15607650T>C g.15589527T>C - - ACE2_000009 - - - - Germline - - - - - Yu Sun
?/. 1 - c.584-8dup r.(=) p.(=) - VUS g.15607597dup g.15589474dup ACE2(NM_021804.2):c.584-8_584-7insA (p.(=)) - ACE2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.584-7C>A r.(=) p.(=) - VUS g.15607586G>T g.15589463G>T ACE2(NM_021804.2):c.584-7C>A (p.(=)) - ACE2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 6 c.631G>A r.(?) p.(Gly211Arg) - likely benign, VUS g.15607532C>T g.15589409C>T - - ACE2_000006 found once, nonrecurrent change PubMed: Tarpey 2009 - rs148771870 Germline - 1/208 cases - - - Johan den Dunnen, Alessandra Renieri
?/. 2 - c.655C>T r.(?) p.(Arg219Cys) - VUS g.15607508G>A g.15589385G>A ACE2(NM_021804.2):c.655C>T (p.R219C, p.(Arg219Cys)) - ACE2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.791C>G r.(?) p.(Ala264Gly) - VUS g.15605887G>C g.15587764G>C - - ACE2_000036 - - - - Germline - - - - - Alessandra Renieri
?/. 1 - c.863A>C r.(?) p.(Lys288Thr) - VUS g.15603635T>G - ACE2(NM_021804.2):c.863A>C (p.K288T) - ACE2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.889A>T r.(?) p.(Met297Leu) - likely benign g.15603609T>A - ACE2(NM_021804.2):c.889A>T (p.M297L) - ACE2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.986A>G r.(?) p.(Glu329Gly) - VUS g.15599428T>C g.15581305T>C - - ACE2_000035 - - - rs143936283 Germline - - - - - Alessandra Renieri
?/. 1 - c.1051C>G r.(?) p.(Leu351Val) - VUS g.15599363G>C g.15581240G>C - - ACE2_000034 - - - - Germline - - - - - Alessandra Renieri
?/. 1 - c.1129G>T r.(?) p.(Gly377Trp) - VUS g.15596380C>A g.15578257C>A - - ACE2_000033 - - - - Germline - - - - - Alessandra Renieri
-?/. 1 - c.1164A>G r.(?) p.(Gln388=) - likely benign g.15596345T>C - ACE2(NM_021804.2):c.1164A>G (p.Q388=) - ACE2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1166C>A r.(?) p.(Pro389His) - VUS g.15596343G>T g.15578220G>T - - ACE2_000032 - - - - Germline - - - - - Alessandra Renieri
?/. 1 - c.1189A>G r.(?) p.(Asn397Asp) - VUS g.15596320T>C g.15578197T>C - - ACE2_000031 - - - rs1365935088 Germline - - - - - Alessandra Renieri
-?/. 2 10i c.1297+68_1297+69insCTTAT r.(?), r.?) p.(=) - likely benign g.15596147_15596148insGATAA g.15578024_15578025insGATAA - - ACE2_000010 - - - - Germline - - - - - Yu Sun
-?/. 1 11i c.1443-97dup r.(=) p.(=) - likely benign g.15591702dup g.15573579dup - - ACE2_000008 - - - - Germline - - - - - Yu Sun
-?/. 1 11i c.1443-97_1443-96del r.(?) p.(=) - likely benign g.15591684_15591685del g.15573561_15573562del - - ACE2_000015 - - - - Germline - - - - - Yu Sun
-?/. 2 11i c.1443-94del r.(=) p.(=) - likely benign g.15591684del g.15573561del - - ACE2_000013 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1492T>C r.(?) p.(Cys498Arg) - VUS g.15591539A>G g.15573416A>G - - ACE2_000030 - - - - Germline - - - - - Alessandra Renieri
?/. 2 12 c.1514A>G r.(?) p.(His505Arg) - VUS g.15591517T>C g.15573394T>C ACE2(NM_021804.2):c.1514A>G (p.H505R) - ACE2_000004 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 1/208 cases - - - Johan den Dunnen, VKGL-NL_Rotterdam
?/. 1 - c.1517T>C r.(?) p.(Val506Ala) - VUS g.15591514A>G g.15573391A>G - - ACE2_000024 - - - rs775181355 Germline - - - - - Alessandra Renieri
?/. 1 - c.1640C>G r.(?) p.(Ser547Cys) - VUS g.15590348G>C g.15572225G>C - - ACE2_000029 - - - - Germline - - - - - Alessandra Renieri
-?/. 1 - c.1665C>G r.(?) p.(Phe555Leu) - likely benign g.15589919G>C - ACE2(NM_021804.2):c.1665C>G (p.F555L) - ACE2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1840G>T r.(?) p.(Ala614Ser) - likely benign g.15588474C>A g.15570351C>A ACE2(NM_021804.2):c.1840G>T (p.A614S), ACE2(NM_021804.3):c.1840G>T (p.A614S) - ACE2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.2012G>A r.(?) p.(Arg671Gln) - VUS g.15584478C>T g.15566355C>T - - ACE2_000028 - - - rs753705431 Germline - - - - - Alessandra Renieri
?/. 1 - c.2069del r.(?) p.(Asn690Metfs*28) - VUS g.15584420del g.15566298del - - ACE2_000027 1 more item - - - Germline - - - - - Alessandra Renieri
-?/. 2 17i c.2115-268A>G r.(?) p.(=) - likely benign g.15582609T>C g.15564486T>C - - ACE2_000007 - - - - Germline - - - - - Yu Sun
?/. 1 - c.2128C>T r.(?) p.(Arg710Cys) - VUS g.15582328G>A - ACE2(NM_021804.2):c.2128C>T (p.R710C) - ACE2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2147G>A r.(?) p.(Arg716His) - likely benign g.15582309C>T g.15564186C>T ACE2(NM_021804.2):c.2147G>A (p.R716H) - ACE2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 18 c.2158A>G r.(?) p.(Asn720Asp) - likely benign, VUS g.15582298T>C g.15564175T>C - - ACE2_000002 recurrent, found 6 times PubMed: Tarpey 2009 - rs41303171 Germline - 6/208 cases - - - Johan den Dunnen, Alessandra Renieri
-?/., ?/. 2 - c.2221A>G r.(?) p.(Ile741Val) - likely benign, VUS g.15582235T>C g.15564112T>C ACE2(NM_021804.2):c.2221A>G (p.I741V) - ACE2_000026 VKGL data sharing initiative Nederland - - rs372923812 CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Alessandra Renieri
-?/. 1 18 c.2247G>A r.(?) p.(Val749=) - likely benign g.15582209C>T g.15564086C>T V749V - ACE2_000003 recurrent, found 12 times PubMed: Tarpey 2009 - rs35803318 Germline - 12/208 cases - - - Johan den Dunnen
?/. 1 19 c.2353G>T r.(?) p.(Asp785Tyr) - VUS g.15580093C>A g.15561970C>A - - ACE2_000025 - - - rs373153165 Germline - - - - - Alessandra Renieri
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