Full data view for gene FECH

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

41 entries on 1 page. Showing entries 1 - 41.
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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.-22761328_*6855280del r.0? p.0? Unknown - pathogenic g.48362664_78015180del - - - ATP8B1_000025 mosaicism, hemizygous in 0.46 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. - c.67+2T>G r.spl? p.? Unknown - pathogenic g.55253784A>C g.57586552A>C FECH(NM_000140.4):c.67+2T>G - FECH_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.68-23C>T r.(=) p.(=) Unknown - benign g.55247454G>A g.57580222G>A FECH(NM_000140.4):c.68-23C>T - FECH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.102G>A r.(?) p.(Trp34Ter) Unknown - pathogenic g.55247397C>T g.57580165C>T FECH(NM_000140.4):c.102G>A (p.W34*) - FECH_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.163G>T r.(?) p.(Gly55Cys) Unknown - benign g.55247336C>A g.57580104C>A FECH(NM_000140.4):c.163G>T (p.G55C), FECH(NM_001012515.4):c.163G>T (p.G55C) - FECH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.163G>T r.(?) p.(Gly55Cys) Unknown - likely benign g.55247336C>A g.57580104C>A FECH(NM_000140.4):c.163G>T (p.G55C), FECH(NM_001012515.4):c.163G>T (p.G55C) - FECH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.201G>A r.(?) p.(Pro67=) Unknown - likely benign g.55240591C>T g.57573359C>T FECH(NM_001012515.3):c.219G>A (p.P73=) - FECH_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.287G>A r.(?) p.(Arg96Gln) Unknown - benign g.55240505C>T g.57573273C>T FECH(NM_000140.4):c.287G>A (p.R96Q) - FECH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.314+23A>G r.(=) p.(=) Unknown - benign g.55240455T>C g.57573223T>C FECH(NM_000140.4):c.314+23A>G - FECH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.315-48T>C r.(=) p.(=) Unknown - pathogenic g.55238820A>G g.57571588A>G FECH(NM_000140.4):c.315-48T>C - FECH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.362A>G r.(?) p.(Glu121Gly) Unknown - VUS g.55238725T>C g.57571493T>C FECH(NM_001012515.4):c.380A>G (p.E127G) - FECH_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.362A>G r.(?) p.(Glu121Gly) Unknown - pathogenic g.55238725T>C - - - FECH_000026 - - - rs141813907 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.385G>A r.(?) p.(Gly129Arg) Unknown - VUS g.55238702C>T g.57571470C>T FECH(NM_001012515.4):c.403G>A (p.G135R) - FECH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.437T>A r.(?) p.(Leu146Gln) Unknown - VUS g.55238650A>T g.57571418A>T FECH(NM_001012515.4):c.455T>A (p.L152Q) - FECH_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.489del r.(?) p.(Arg164GlyfsTer6) Unknown - pathogenic g.55233790del g.57566558del FECH(NM_000140.4):c.489delT (p.R164Gfs*6) - FECH_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.552G>A r.(?) p.(Arg184=) Unknown - likely benign g.55233725C>T - FECH(NM_001012515.3):c.570G>A (p.R190=) - FECH_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.575C>T r.(?) p.(Pro192Leu) Unknown - VUS g.55233702G>A - FECH(NM_001012515.3):c.593C>T (p.P198L) - FECH_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.681G>A r.(?) p.(Trp227Ter) Unknown - pathogenic g.55230130C>T g.57562898C>T FECH(NM_000140.4):c.681G>A (p.W227*) - FECH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.684C>T r.(?) p.(Pro228=) Unknown - likely benign g.55230127G>A - FECH(NM_001012515.3):c.702C>T (p.P234=) - FECH_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.705+1G>C r.(?) p.(?) Unknown - pathogenic g.55230105C>G - - - FECH_000034 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.790T>C r.(?) p.(Ser264Pro) Unknown - pathogenic g.55226391A>G g.57559159A>G FECH(NM_000140.4):c.790T>C (p.S264P) - FECH_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.798C>G r.(?) p.(Pro266=) Unknown - benign g.55226383G>C g.57559151G>C FECH(NM_000140.4):c.798C>G (p.P266=), FECH(NM_001012515.4):c.816C>G (p.P272=) - FECH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.798C>G r.(?) p.(Pro266=) Unknown - benign g.55226383G>C g.57559151G>C FECH(NM_000140.4):c.798C>G (p.P266=), FECH(NM_001012515.4):c.816C>G (p.P272=) - FECH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.801G>A r.(?) p.(Met267Ile) Unknown - VUS g.55226380C>T g.57559148C>T FECH(NM_001012515.3):c.819G>A (p.M273I), FECH(NM_001012515.4):c.819G>A (p.M273I) - FECH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.801G>A r.(?) p.(Met267Ile) Unknown - VUS g.55226380C>T - FECH(NM_001012515.3):c.819G>A (p.M273I), FECH(NM_001012515.4):c.819G>A (p.M273I) - FECH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.804+1G>A r.spl? p.? Unknown - pathogenic g.55226376C>T g.57559144C>T FECH(NM_000140.4):c.804+1G>A - FECH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.805-1G>C r.(?) p.(?) Unknown - pathogenic g.55222185C>G - - - FECH_000033 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.853C>T r.(?) p.(Gln285Ter) Unknown - pathogenic g.55222136G>A g.57554904G>A FECH(NM_000140.4):c.853C>T (p.Q285*) - FECH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.892C>T r.(?) p.(Arg298Ter) Unknown - pathogenic g.55222097G>A - - - FECH_000035 - - - rs2050848238 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.913-62_913-61del r.(=) p.(=) Unknown - benign g.55221717_55221718del g.57554485_57554486del FECH(NM_000140.4):c.913-62_913-61delAG - FECH_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.921A>G r.(?) p.(Pro307=) Unknown - benign g.55221648T>C g.57554416T>C FECH(NM_000140.4):c.921A>G (p.P307=), FECH(NM_001012515.4):c.939A>G (p.P313=) - FECH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.921A>G r.(?) p.(Pro307=) Unknown - benign g.55221648T>C g.57554416T>C FECH(NM_000140.4):c.921A>G (p.P307=), FECH(NM_001012515.4):c.939A>G (p.P313=) - FECH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.930G>A r.(?) p.(Trp310Ter) Unknown - pathogenic g.55221639C>T g.57554407C>T FECH(NM_000140.4):c.930G>A (p.W310*) - FECH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.984G>T r.(?) p.(Lys328Asn) Unknown - VUS g.55221585C>A g.57554353C>A FECH(NM_001012515.3):c.1002G>T (p.K334N) - FECH_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1022A>G r.(?) p.(His341Arg) Unknown - pathogenic g.55221547T>C g.57554315T>C FECH(NM_000140.4):c.1022A>G (p.H341R) - FECH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1078-51del r.(=) p.(=) Unknown - benign g.55218665del g.57551433del FECH(NM_000140.4):c.1078-51delA - FECH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1078-2A>G r.spl? p.? Unknown - pathogenic g.55218608T>C g.57551376T>C FECH(NM_000140.4):c.1078-2A>G - FECH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1099A>T r.(?) p.(Arg367Ter) Unknown - pathogenic g.55218585T>A g.57551353T>A FECH(NM_000140.4):c.1099A>T (p.R367*) - FECH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1162C>A r.(?) p.(His388Asn) Unknown - pathogenic g.55218054G>T g.57550822G>T FECH(NM_000140.4):c.1162C>A (p.H388N) - FECH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1217G>C r.(?) p.(Cys406Ser) Unknown - pathogenic g.55217999C>G g.57550767C>G FECH(NM_000140.4):c.1217G>C (p.C406S) - FECH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1224T>A r.(?) p.(Asn408Lys) Parent #1 - VUS g.55217992A>T g.57550760A>T - - FECH_000029 no interpretation available; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs267606803 Germline - 1/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
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