Full data view for gene EPAS1

Information The variants shown are described using the NM_001430.4 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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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.-18924643_*15469382dup r.0? p.0? Unknown - VUS g.27600408_62081181dup - chr2:27600408–62081181 - FSHR_000025 - PubMed: Ellingsford 2018 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.26+179G>A r.(?) p.(?) Unknown - benign g.46525255G>A - - - EPAS1_000041 - - - rs73926251 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.217+150T>C r.(?) p.(?) Unknown - likely benign g.46574352T>C - - - EPAS1_000042 - - - rs148280013 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.218-12C>A r.(=) p.(=) Unknown - benign g.46583278C>A - - - EPAS1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.218-12C>T r.(=) p.(=) Unknown - likely benign g.46583278C>T - EPAS1(NM_001430.5):c.218-12C>T - EPAS1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.218-12_218-11insGC r.(=) p.(=) Unknown - benign g.46583278_46583279insGC g.46356139_46356140insGC EPAS1(NM_001430.5):c.218-12_218-11insGC - EPAS1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.218-11C>G r.(=) p.(=) Unknown - benign g.46583279C>G - EPAS1(NM_001430.5):c.218-11C>G - EPAS1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.218-11C>G r.(=) p.(=) Unknown - likely benign g.46583279C>G - EPAS1(NM_001430.5):c.218-11C>G - EPAS1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.218-11_218-10insT r.(=) p.(=) Unknown - benign g.46583279_46583280insT - EPAS1(NM_001430.5):c.218-11_218-10insT - EPAS1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.218-10C>G r.(=) p.(=) Unknown - likely benign g.46583280C>G - EPAS1(NM_001430.5):c.218-10C>G - EPAS1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.218-10C>T r.(=) p.(=) Unknown - benign g.46583280C>T g.46356141C>T EPAS1(NM_001430.5):c.218-10C>T - EPAS1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.218-9C>T r.(=) p.(=) Unknown - benign g.46583281C>T g.46356142C>T EPAS1(NM_001430.5):c.218-9C>T - EPAS1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.218-9_218-8insT r.(=) p.(=) Unknown - benign g.46583281_46583282insT g.46356142_46356143insT EPAS1(NM_001430.5):c.218-9_218-8insT - EPAS1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.218-9_218-8insT r.(=) p.(=) Unknown - benign g.46583281_46583282insT - EPAS1(NM_001430.5):c.218-9_218-8insT - EPAS1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.218-8del r.(=) p.(=) Unknown - likely benign g.46583282del - EPAS1(NM_001430.5):c.218-8del - EPAS1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.231C>T r.(?) p.(Asn77=) Unknown - likely benign g.46583303C>T g.46356164C>T EPAS1(NM_001430.4):c.231C>T (p.N77=) - EPAS1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.574-11G>A r.(?) p.(?) Unknown - likely benign g.46588013G>A - - - EPAS1_000043 - - - rs199730851 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.667A>C r.(?) p.(Ile223Leu) Unknown - likely benign g.46588117A>C g.46360978A>C EPAS1(NM_001430.4):c.667A>C (p.I223L) - EPAS1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.744C>T r.(?) p.(=) Unknown - likely benign g.46588194C>T - - - EPAS1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.779+8G>T r.(=) p.(=) Unknown - likely benign g.46588237G>T - EPAS1(NM_001430.5):c.779+8G>T - EPAS1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.779+8G>T r.(=) p.(=) Unknown - likely benign g.46588237G>T - EPAS1(NM_001430.5):c.779+8G>T - EPAS1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.887-67C>A r.(?) p.(?) Unknown - likely benign g.46602762C>A - - - EPAS1_000052 - - - rs142422464 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1034+112A>G r.(?) p.(?) Unknown - likely benign g.46603088A>G - - - EPAS1_000044 - - - rs115072343 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1035-38A>C r.(?) p.(?) Unknown - likely benign g.46603640A>C - - - EPAS1_000045 - - - rs116083076 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1121T>A r.(?) p.(Phe374Tyr) Unknown - likely benign g.46603764T>A - EPAS1(NM_001430.4):c.1121T>A (p.(Phe374Tyr)), EPAS1(NM_001430.5):c.1121T>A (p.F374Y) - EPAS1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1121T>A r.(?) p.(Phe374Tyr) Unknown - likely benign g.46603764T>A - EPAS1(NM_001430.4):c.1121T>A (p.(Phe374Tyr)), EPAS1(NM_001430.5):c.1121T>A (p.F374Y) - EPAS1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1121T>A r.(?) p.(Phe374Tyr) Unknown - likely benign g.46603764T>A - EPAS1(NM_001430.4):c.1121T>A (p.(Phe374Tyr)), EPAS1(NM_001430.5):c.1121T>A (p.F374Y) - EPAS1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1186G>T r.(?) p.(Glu396*) Unknown - VUS g.46603829G>T - EPAS1(NM_001430.4):c.1186G>T (p.(Glu396*)) - EPAS1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1249G>C r.(?) p.(Gly417Arg) Unknown - VUS g.46603892G>C - EPAS1(NM_001430.4):c.1249G>C (p.(Gly417Arg)) - EPAS1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1249+38C>T r.(?) p.(?) Unknown - benign g.46603930C>T - - - EPAS1_000046 - - - rs77794056 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1249+116_1249+118del r.(?) p.(?) Unknown - likely benign g.46604008_46604010del - - - EPAS1_000038 - - - rs761252285 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1250-123dup r.(?) p.(?) Unknown - likely benign g.46604910dup - - - EPAS1_000047 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1300C>T r.(?) p.(Pro434Ser) Unknown - likely benign g.46605083C>T - - - EPAS1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1443+141T>G r.(?) p.(?) Unknown - likely benign g.46605367T>G - - - EPAS1_000048 - - - rs184281078 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1554+192A>G r.(?) p.(?) Unknown - likely benign g.46606098A>G - - - EPAS1_000049 - - - rs75840827 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/+ 12 c.1601C>T r.(?) p.(Pro534Leu) Unknown - pathogenic g.46607412C>T g.46380273C>T - - EPAS1_000006 - PubMed: Furlow 2009 - - Unknown - - - - - DNA SEQ - - ECYT4 - - - - - - - - - - - 1 Celeste Bento
+?/+? 12 c.1603A>G r.(?) p.Met535Val Unknown - pathogenic g.46607414A>G g.46380275A>G - - EPAS1_000001 - PubMed: Percy 2008 - - Unknown - 1/75 patients - - - DNA SEQ - - ECYT4 - PubMed: Percy 2008 - F - United Kingdom (Great Britain) - - - - - 1 Celeste Bento
+/+ 12 c.1604T>C r.(?) p.(Met535Thr) Unknown - likely pathogenic g.46607415T>C g.46380276T>C - - EPAS1_000007 C-terminal and in close proximity to the primary site of prolyl hydroxyla- tion in HIF-2a, Pro-531 PubMed: Percy 2012 - - Unknown - - - - - DNA SEQ - - ECYT4 - PubMed: Percy 2012 - F - (United Kingdom (Great Britain)) - - - - - 1 Celeste Bento
+/+ 12 c.1604T>C r.(?) p.(Met535Thr) Paternal (inferred) - pathogenic g.46607415T>C g.46380276T>C - - EPAS1_000007 C-terminal and in close proximity to the primary site of prolyl hydroxyla- tion in HIF-2a, Pro-531 PubMed: Percy 2012 - - Germline - - - - - DNA SEQ - - ECYT4 - PubMed: Percy 2012 - M - Brazil - - - - - 2 Celeste Bento
+?/+? 12 c.1609G>A r.(?) p.(Gly537Arg) Unknown - likely pathogenic g.46607420G>A g.46380281G>A - - EPAS1_000002 - PubMed: Percy 2008 - - Unknown - 1/75 patients - - - DNA SEQ - - ECYT4 - PubMed: Percy 2008 Her 3 children all have normal indices F - United Kingdom (Great Britain) - - - - - 1 Celeste Bento
+/+ 12 c.1609G>A r.(?) p.(Gly537Arg) Unknown - pathogenic g.46607420G>A g.46380281G>A - - EPAS1_000002 - PubMed: Percy 2008 - - Germline - 1/75 patients - - - DNA SEQ - - ECYT4 - PubMed: Percy 2008 Her father was diagnosed with erythrocytosis and had regular venesections. F - Netherlands - - - - - 2 Celeste Bento
+/+ 12 c.1609G>A r.(?) p.(Gly537Arg) Unknown - pathogenic g.46607420G>A g.46380281G>A - - EPAS1_000002 - PubMed: Percy 2008 - - Unknown - 1/75 patients - - - DNA SEQ - - ECYT4 - PubMed: Percy 2008 1 Fam (2 Pat); His only symptom was intermittent itch; His 11-year-old daughter was diagnosed with erythrocytosis. M - Uganda - - - - - 1 Celeste Bento
+/+ 12 c.1609G>T r.(?) p.(Gly537Trp) Maternal (confirmed) - pathogenic g.46607420G>T g.46380281G>T - - EPAS1_000003 Gly537 is located in the vicinity of Pro531 PubMed: Percy 2008 - - Germline - 1/188 patients - - - DNA SEQ - - ECYT4 - PubMed: Percy 2008 - M - United Kingdom (Great Britain) - - - - - 2 Celeste Bento
+/+ 12 c.1617C>G r.(?) p.(Asp539Glu) Unknown - pathogenic g.46607428C>G g.46380289C>G - - EPAS1_000004 mutation affecting a residue C-terminal to the hydroxylacceptor Pro531 PubMed: van Wijk 2010 - - Unknown - 1/106 controls BbsI - - DNA SEQ - - ECYT4 - PubMed: van Wijk 2010 - - - Afghanistan - - - - - 1 Celeste Bento
+/+ 12 c.1620C>G r.(?) p.(Phe540Leu) Unknown - pathogenic g.46607431C>G g.46380292C>G - - EPAS1_000005 C-terminal and in close proximity to the primary site of prolyl hydroxyla- tion in HIF-2a, Pro-531 PubMed: Percy 2012 - - Unknown - - - - - DNA SEQ - - ECYT4 - PubMed: Percy 2012 Family history of erythrocytosis M - - - - - - - 1 Celeste Bento
-/. - c.1833C>T r.(?) p.(Ala611=) Unknown - benign g.46607644C>T - - - EPAS1_000039 - - - rs41281469 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1910C>T r.(?) p.(Thr637Ile) Unknown - VUS g.46607721C>T - EPAS1(NM_001430.4):c.1910C>T (p.T637I) - EPAS1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1963G>A r.(?) p.(Gly655Arg) Unknown - likely benign g.46607774G>A - - - EPAS1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2172+10C>A r.(=) p.(=) Unknown - likely benign g.46608871C>A - EPAS1(NM_001430.5):c.2172+10C>A - EPAS1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2173-69C>G r.(?) p.(?) Unknown - likely benign g.46609045C>G - - - EPAS1_000040 - - - rs79843796 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2243G>A r.(?) p.(Cys748Tyr) Unknown - VUS g.46609184G>A - EPAS1(NM_001430.5):c.2243G>A (p.C748Y) - EPAS1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2287+50C>T r.(?) p.(?) Unknown - likely benign g.46609278C>T - - - EPAS1_000050 - - - rs144804391 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2296A>C r.(?) p.(Thr766Pro) Parent #1 - benign g.46609572A>C g.46382433A>C - - EPAS1_000019 73 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs59901247 Germline - 73/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 73 Mohammed Faruq
-/. - c.2296A>C r.(?) p.(Thr766Pro) Both (homozygous) - benign g.46609572A>C g.46382433A>C - - EPAS1_000019 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs59901247 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.2296A>C r.(?) p.(Thr766Pro) Unknown - benign g.46609572A>C - - - EPAS1_000019 - - - rs59901247 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2442G>A r.(?) p.(Ser814=) Unknown - likely benign g.46609718G>A - - - EPAS1_000051 - - - rs4953362 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2457G>A r.(?) p.(Val819=) Unknown - likely benign g.46609733G>A - EPAS1(NM_001430.5):c.2457G>A (p.(Val819=), p.V819=) - EPAS1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2457G>A r.(?) p.(Val819=) Unknown - likely benign g.46609733G>A - EPAS1(NM_001430.5):c.2457G>A (p.(Val819=), p.V819=) - EPAS1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2457G>A r.(?) p.(Val819=) Unknown - likely benign g.46609733G>A - EPAS1(NM_001430.5):c.2457G>A (p.(Val819=), p.V819=) - EPAS1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*54C>T r.(?) p.(?) Unknown - likely benign g.46611853C>T - - - EPAS1_000037 - - - rs142847751 Unknown - - - - - - - - - - - - - - - - - - - - - - -
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