All variants in the FOXI1 gene

Information The variants shown are described using the NM_012188.4 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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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.30C>T r.(?) p.(Ser10=) - likely benign g.169532991C>T g.170105987C>T FOXI1(NM_012188.4):c.30C>T (p.S10=) - FOXI1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.279G>A r.(?) p.(Arg93=) - benign g.169533240G>A g.170106236G>A FOXI1(NM_012188.5):c.279G>A (p.R93=) - FOXI1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.279G>A r.(?) p.(Arg93=) - benign g.169533240G>A g.170106236G>A FOXI1(NM_012188.5):c.279G>A (p.R93=) - FOXI1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.308G>A r.(?) p.(Gly103Glu) - VUS g.169533269G>A - FOXI1(NM_012188.4):c.308G>A (p.G103E) - FOXI1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.318C>G r.(?) p.(Asp106Glu) - likely benign g.169533279C>G g.170106275C>G FOXI1(NM_012188.4):c.318C>G (p.D106E) - FOXI1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/+? 1 c.367C>T r.(?) p.(Arg123Trp) - likely pathogenic g.169533328C>T g.170106324C>T - - FOXI1_000022 - MORL Deafness Variation Database, PubMed: Landa 2013 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
-?/. - c.417A>G r.(?) p.(Ala139=) - likely benign g.169533378A>G g.170106374A>G FOXI1(NM_012188.4):c.417A>G (p.A139=) - FOXI1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.427C>T r.(?) p.(Arg143Cys) - VUS g.169533388C>T g.170106384C>T - - FOXI1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 c.483_485del r.(?) p.Asn161del - NA g.169533444_169533446del g.170106440_170106442del N161del - FOXI1_000004 FOX1 expression cloning and analysis in a promoter-reporter assay shows significantly decreased transcription of a SLC26A4 construct PubMed: Yang 2007, Journal: Yang 2007 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. 1 c.483_485del r.(483_485del) p.(Asn161del) - pathogenic g.169533444_169533446del g.170106440_170106442del N161del - FOXI1_000004 not in 500 control chromosomes PubMed: Yang 2007, Journal: Yang 2007 - - Germline - - - 0 - Johan den Dunnen
+/+ 1 c.483_485del r.(?) p.(Asn161del) - pathogenic g.169533444_169533446del g.170106440_170106442del - - FOXI1_000004 - MORL Deafness Variation Database, PubMed: Yang 2007 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
?/. 1 c.519C>A r.(?) p.(His173Gln) - VUS g.169533480C>A g.170106476C>A - - FOXI1_000006 - author, submitted - - De novo - - - 0 - Yalan Liu
-?/. - c.716C>T r.(?) p.(Pro239Leu) - likely benign g.169535194C>T g.170108190C>T - - FOXI1_000016 excluded single allele in AR disease gene inherited from the healthy mother with no clinical relevance to proband's presentation PubMed: Helbig 2017 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.716C>T r.(?) p.(Pro239Leu) - likely benign g.169535194C>T g.170108190C>T FOXI1(NM_012188.4):c.716C>T (p.P239L) - FOXI1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 2 c.716C>T r.(?) p.(Pro239Leu) - likely pathogenic g.169535194C>T g.170108190C>T - - FOXI1_000016 - MORL Deafness Variation Database, PubMed: Cirello 2012 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
-/. - c.726C>T r.(?) p.(Ser242=) - benign g.169535204C>T g.170108200C>T - - FOXI1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 2 c.772G>C r.(?) p.(Gly258Arg) - pathogenic g.169535250G>C g.170108246G>C - - FOXI1_000023 - MORL Deafness Variation Database, PubMed: Yang 2007 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
+/. 2 c.772G>M r.(?) p.Gly258Arg - NA g.169535250G>M g.170108246G>M G258R - FOXI1_000002 FOX1 expression cloning and analysis in a promoter-reporter assay shows significantly decreased transcription of a SLC26A4 construct PubMed: Yang 2007, Journal: Yang 2007 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. 2 c.772G>M r.(772g>m) p.(Gly258Arg) - pathogenic g.169535250G>M g.170108246G>M G258R - FOXI1_000002 not in 500 control chromosomes PubMed: Yang 2007, Journal: Yang 2007 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.773G>A r.(773g>a) p.(Gly258Glu) - pathogenic g.169535251G>A g.170108247G>A G258E - FOXI1_000001 variant not in 500 control chromosomes; suggested digenic inheritance PubMed: Yang 2007, Journal: Yang 2007, OMIM:var0001 - rs121909340 Germline yes - - 0 - Johan den Dunnen
+/. 2 c.773G>A r.(?) p.Gly258Glu - NA g.169535251G>A g.170108247G>A - - FOXI1_000001 FOX1 expression cloning and analysis in a promoter-reporter assay shows significantly decreased transcription of a SLC26A4 construct PubMed: Yang 2007, Journal: Yang 2007 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/+ 2 c.773G>A r.(?) p.(Gly258Glu) - pathogenic g.169535251G>A g.170108247G>A - - FOXI1_000001 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Yang 2007 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
+/. 2 c.800G>A r.(?) p.Arg267Gln - NA g.169535278G>A g.170108274G>A R267Q - FOXI1_000003 FOX1 expression cloning and analysis in a promoter-reporter assay shows significantly decreased transcription of a SLC26A4 construct PubMed: Yang 2007, Journal: Yang 2007, OMIM:var0002 - rs121909341 In vitro (cloned) - - - 0 - Johan den Dunnen
+/. 2 c.800G>A r.(800g>a) p.(Arg267Gln) - pathogenic g.169535278G>A g.170108274G>A R267Q - FOXI1_000003 not in 500 control chromosomes PubMed: Yang 2007, Journal: Yang 2007, OMIM:var0002 - rs121909341 Germline - - - 0 - Johan den Dunnen
+/. 2 c.800G>A r.(800g>a) p.(Arg267Gln) - pathogenic g.169535278G>A g.170108274G>A R267Q - FOXI1_000003 not in 500 control chromosomes PubMed: Yang 2007, Journal: Yang 2007, OMIM:var0002 - rs121909341 Germline - - - 0 - Johan den Dunnen
+/+ 2 c.800G>A r.(?) p.(Arg267Gln) - pathogenic g.169535278G>A g.170108274G>A - - FOXI1_000003 - MORL Deafness Variation Database, PubMed: Shearer 1993, PubMed: Smith 1993, PubMed: Yang 2007 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
?/. - c.822C>T r.(?) p.(Gly274=) - VUS g.169535300C>T g.170108296C>T FOXI1(NM_012188.4):c.822C>T (p.G274=) - FOXI1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.825C>T r.(?) p.(Ala275=) - likely benign g.169535303C>T - FOXI1(NM_012188.4):c.825C>T (p.A275=) - FOXI1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.972G>C r.(?) p.(Pro324=) - benign g.169535450G>C g.170108446G>C - - FOXI1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 2 c.1004G>T r.(?) p.Gly335Val - NA g.169535482G>T g.170108478G>T G335V - FOXI1_000005 FOX1 expression cloning and analysis in a promoter-reporter assay shows significantly decreased transcription of a SLC26A4 construct PubMed: Yang 2007, Journal: Yang 2007 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. 2 c.1004G>T r.(1004g>t) p.(Gly335Val) - pathogenic g.169535482G>T g.170108478G>T G335V - FOXI1_000005 not in 500 control chromosomes PubMed: Yang 2007, Journal: Yang 2007 - - Germline - - - 0 - Johan den Dunnen
+/+ 2 c.1004G>T r.(?) p.(Gly335Val) - pathogenic g.169535482G>T g.170108478G>T - - FOXI1_000005 - MORL Deafness Variation Database, PubMed: Yang 2007 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
-/. - c.1014G>A r.(?) p.(Ala338=) - benign g.169535492G>A g.170108488G>A FOXI1(NM_012188.4):c.1014G>A (p.A338=) - FOXI1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1044T>C r.(?) p.(Tyr348=) - benign g.169535522T>C g.170108518T>C FOXI1(NM_012188.5):c.1044T>C (p.Y348=) - FOXI1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1044T>C r.(?) p.(Tyr348=) - benign g.169535522T>C g.170108518T>C FOXI1(NM_012188.5):c.1044T>C (p.Y348=) - FOXI1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1085A>G r.(?) p.(Asn362Ser) - likely benign g.169535563A>G g.170108559A>G FOXI1(NM_012188.4):c.1085A>G (p.N362S) - FOXI1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1090G>A r.(?) p.(Val364Ile) - likely benign g.169535568G>A g.170108564G>A FOXI1(NM_012188.4):c.1090G>A (p.V364I) - FOXI1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1110C>G r.(?) p.(Leu370=) - likely benign g.169535588C>G g.170108584C>G FOXI1(NM_012188.4):c.1110C>G (p.L370=) - FOXI1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1129G>A r.(?) p.(Glu377Lys) - VUS g.169535607G>A g.170108603G>A FOXI1(NM_012188.4):c.1129G>A (p.E377K) - FOXI1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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