All variants in the FOXRED1 gene

Information The variants shown are described using the NM_017547.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

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     
?/. - c.-4129G>C r.(?) p.(=) - VUS g.126134973G>C g.126265078G>C SRPRA(NM_001177842.1):c.1322C>G (p.T441S) - FAM118B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-3175C>T r.(?) p.(=) - VUS g.126135927C>T g.126266032C>T SRPR(NM_001177842.1):c.898G>A (p.(Val300Met)) - FAM118B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-1205C>G r.(?) p.(=) - VUS g.126137897C>G g.126268002C>G - - SRPR_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-2T>C r.(?) p.(=) - benign g.126139100T>C g.126269205T>C FOXRED1(NM_017547.4):c.-2T>C - FOXRED1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.85+127T>A r.(=) p.(=) - benign g.126139313T>A g.126269418T>A FOXRED1(NM_017547.4):c.85+127T>A - FOXRED1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.124A>C r.(?) p.(Lys42Gln) - likely benign g.126141370A>C g.126271475A>C FOXRED1(NM_017547.3):c.124A>C (p.K42Q), FOXRED1(NM_017547.4):c.124A>C (p.K42Q) - FOXRED1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.124A>C r.(?) p.(Lys42Gln) - likely benign g.126141370A>C g.126271475A>C FOXRED1(NM_017547.3):c.124A>C (p.K42Q), FOXRED1(NM_017547.4):c.124A>C (p.K42Q) - FOXRED1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.205G>A r.(?) p.(Val69Met) - VUS g.126141451G>A - FOXRED1(NM_017547.4):c.205G>A (p.(Val69Met)) - FAM118B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.406C>T r.(?) p.(Arg136Trp) - likely pathogenic g.126142963C>T g.126273068C>T - - FOXRED1_000014 1 heterozygous, no homozygous; {DB:CLININ11:126142963} PubMed: Narang 2020, Journal: Narang 2020 - - Germline - 1/2794 individuals - - - Mohammed Faruq
-?/. - c.417+10A>G r.(=) p.(=) - likely benign g.126142984A>G g.126273089A>G FOXRED1(NM_017547.3):c.417+10A>G - FOXRED1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.435C>T r.(?) p.(Val145=) - likely benign g.126143248C>T g.126273353C>T FOXRED1(NM_017547.3):c.435C>T (p.V145=) - FOXRED1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.449T>G r.(?) p.(Leu150Arg) - VUS g.126143262T>G g.126273367T>G FOXRED1(NM_017547.3):c.449T>G (p.L150R) - FAM118B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.523G>A r.(?) p.(Val175Met) - VUS g.126143336G>A - FOXRED1(NM_017547.4):c.523G>A (p.(Val175Met)) - FAM118B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.580C>T r.(?) p.(Arg194Trp) - VUS g.126144865C>T g.126274970C>T FOXRED1(NM_017547.4):c.580C>T (p.R194W) - FOXRED1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.580C>T r.(?) p.(Arg194Trp) - VUS g.126144865C>T g.126274970C>T - - FOXRED1_000010 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs191604046 Germline - 1/2795 individuals - - - Mohammed Faruq
+?/. - c.632-1G>A r.spl? p.? - likely pathogenic g.126145221G>A - - - FOXRED1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.632G>C r.(?) p.(Gly211Ala) - VUS g.126145222G>C - FOXRED1(NM_017547.4):c.632G>C (p.G211A) - FOXRED1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.675G>T r.(?) p.(Gln225His) - likely benign g.126145265G>T - FOXRED1(NM_017547.3):c.675G>T (p.Q225H) - FOXRED1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.694C>T r.0 p.0 - pathogenic (recessive) g.126145284C>T - - - FOXRED1_000017 - PubMed: Calvo 2010 - - Germline - - - - - Johan den Dunnen
+?/. - c.733C>T r.(?) p.(Arg245Cys) ACMG likely pathogenic g.126145323C>T - - - FOXRED1_000020 - - - rs545703077 Unknown - - - - - Cordula Haas
+?/. 6i c.733+1G>A r.spl? p.? - likely pathogenic g.126145324G>A g.126275429G>A - - FOXRED1_000001 - - - - Germline - - - - - NeuroMeGen
-?/. - c.739G>T r.(?) p.(Val247Phe) - likely benign g.126145694G>T g.126275799G>T FOXRED1(NM_017547.3):c.739G>T (p.(Val247Phe)) - FOXRED1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.754C>T r.(?) p.(Arg252Cys) - VUS g.126145709C>T - FOXRED1(NM_017547.4):c.754C>T (p.(Arg252Cys)) - FOXRED1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 8 c.920G>A r.(?) p.(Gly307Glu) - likely pathogenic g.126146063G>A g.126276168G>A - - FOXRED1_000002 - - - - Germline yes - - - - NeuroMeGen
+/. - c.1054C>T r.1054c>u p.Arg352Trp - pathogenic (recessive) g.126146371C>T - - - FOXRED1_000018 - PubMed: Fassone 2013 - - Germline - - - - - Johan den Dunnen
-?/. - c.1171T>G r.(?) p.(Leu391Val) - likely benign g.126147035T>G g.126277140T>G FOXRED1(NM_017547.3):c.1171T>G (p.L391V, p.(Leu391Val)) - FOXRED1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1171T>G r.(?) p.(Leu391Val) - likely benign g.126147035T>G g.126277140T>G FOXRED1(NM_017547.3):c.1171T>G (p.L391V, p.(Leu391Val)) - FOXRED1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1289A>G r.1289a>g p.Asn430Ser - pathogenic (recessive) g.126147412A>G - - - FOXRED1_000016 - PubMed: Calvo 2010 - - Germline - - - - - Johan den Dunnen
?/. - c.1293G>C r.(?) p.(Met431Ile) - VUS g.126147416G>C - FOXRED1(NM_017547.4):c.1293G>C (p.(Met431Ile)) - FOXRED1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1321G>A r.(?) p.(Gly441Arg) - VUS g.126147444G>A - FOXRED1(NM_017547.4):c.1321G>A (p.(Gly441Arg)) - FOXRED1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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