Full data view for gene FGF3

Information The variants shown are described using the NM_005247.2 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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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.(?_-3)_(220+1_221-1)del r.spl p.0? Paternal (confirmed) - pathogenic (dominant) g.? - - - DRD4_000002 - PubMed: Prasad 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - disease gene panel ? V2.03 PubMed: Prasad 2016 - M - - - - - - - 1 Johan den Dunnen
+/. - c.17T>C r.(?) p.(Leu6Pro) Both (homozygous) - pathogenic (recessive) g.69633685A>G g.69818917A>G - - FGF3_000010 - PubMed: Tekin 2008 - - Germline yes - - - - DNA SEQ - - deafness Fam2PatIV1/2/3 PubMed: Tekin 2008 2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents F;M - Germany Turkey - - - - 3 Johan den Dunnen
+/+ 1 c.17T>C r.(?) p.(Leu6Pro) Parent #1 - pathogenic g.69633685A>G g.69818917A>G - - FGF3_000010 - MORL Deafness Variation Database, PubMed: Ordonez 1993, PubMed: Tekin 2008 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Ordonez 1993, PubMed: Tekin 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.45del r.(?) p.(Trp16GlyfsTer63) Unknown - likely pathogenic g.69633657del g.69818889del FGF3(NM_005247.3):c.45delC (p.W16Gfs*63) - FGF3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.78G>A r.(?) p.(Arg26=) Unknown - likely benign g.69633624C>T g.69818856C>T FGF3(NM_005247.3):c.78G>A (p.R26=) - FGF3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.146A>G r.(?) p.(Tyr49Cys) Paternal (confirmed) - pathogenic (recessive) g.69633556T>C g.69818788T>C - - FGF3_000014 - PubMed: Sensi 2011 - - Germline - - - - - DNA SEQ - - deafness FamB PubMed: Sensi 2011 2-generation family, 1 affected (F), unaffected heterozygous carrier parents F no Italy - - - - - 1 Johan den Dunnen
+/+ 1 c.146A>G r.(?) p.(Tyr49Cys) Parent #1 - pathogenic g.69633556T>C g.69818788T>C - - FGF3_000014 - MORL Deafness Variation Database, PubMed: Ordonez 1993, PubMed: Sensi 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Ordonez 1993, PubMed: Sensi 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.150C>A r.(?) p.(Cys50*) Both (homozygous) - pathogenic (recessive) g.69633552G>T g.69818784G>T - - FGF3_000003 - PubMed: Dill 2011 - - Germline - - - - - DNA SEQ - - deafness FamPat1 PubMed: Dill 2011 2-generation family, 1 affected (M), unaffected heterozygous carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
+/+ 1 c.150C>A r.(?) p.(Cys50*) Parent #1 - pathogenic g.69633552G>T g.69818784G>T - - FGF3_000003 - MORL Deafness Variation Database, PubMed: Ordonez 1993, PubMed: Dill 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Ordonez 1993, PubMed: Dill 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.150C>A r.(?) p.(Cys50Ter) Unknown - pathogenic g.69633552G>T - FGF3(NM_005247.4):c.150C>A (p.C50*) - FGF3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.166C>T r.(?) p.(Leu56Phe) Both (homozygous) ACMG likely pathogenic (recessive) g.69633536G>A - - - FGF3_000025 homozygous variant was found in two distantly related families with parental consanguinity and segregated in six affected individuals. PubMed: Doll 2020 - - Germline yes - - - - DNA SEQ-NG-I - Exome sequencing deafness - PubMed: Doll 2020 two distantly related families with parental consanguinity, segregating in six affected individuals - yes Pakistan - - - - - 6 Barbara Vona
+/. - c.196G>T r.(?) p.(Gly66Cys) Both (homozygous) - pathogenic (recessive) g.69633506C>A g.69818738C>A - - FGF3_000011 - PubMed: Alsmadi 2009 - - Germline yes - - - - DNA SEQ - - deafness Fam PubMed: Alsmadi 2009 6-generation family, 21 affected (11F, 10M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - 21 Johan den Dunnen
+/+ 1 c.196G>T r.(?) p.(Gly66Cys) Parent #1 - pathogenic g.69633506C>A g.69818738C>A - - FGF3_000011 - MORL Deafness Variation Database, PubMed: Ordonez 1993, PubMed: Alsmadi 2009 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Ordonez 1993, PubMed: Alsmadi 2009 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.255del r.(?) p.(Ile85Metfs*15) Both (homozygous) - pathogenic (recessive) g.69631158del g.69816390del 254delT - FGF3_000009 - PubMed: Tekin 2008 - - Germline - - - - - DNA SEQ - - deafness Fam1 PubMed: Tekin 2008 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F - Turkey - - - - - 1 Johan den Dunnen
+/+ 2 c.255del r.(?) p.(Ile85Metfs*15) Parent #1 - pathogenic g.69631158del g.69816390del - - FGF3_000022 - MORL Deafness Variation Database, PubMed: Ordonez 1993, PubMed: Tekin 2008 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Ordonez 1993, PubMed: Tekin 2008 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.283C>T r.(?) p.(Arg95Trp) Both (homozygous) - pathogenic (recessive) g.69631129G>A g.69816361G>A 284C>T (R95W) - FGF3_000015 - PubMed: Ramsebner 2009 - - Germline yes - - - - DNA SEQ - - deafness Fam PubMed: Ramsebner 2009 3-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents F;M - Somalia - - - - - 4 Johan den Dunnen
+/. - c.283C>T r.(?) p.(Arg95Trp) Both (homozygous) - pathogenic (recessive) g.69631129G>A g.69816361G>A - - FGF3_000015 - PubMed: Riazuddin 2011 - - Germline yes - - - - DNA SEQ - - deafness FamPKDF817 PubMed: Riazuddin 2011 5-generation family, 8 affected (3F,5 M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - 8 Johan den Dunnen
+?/. - c.283C>T r.(?) p.(Arg95Trp) Unknown - likely pathogenic g.69631129G>A g.69816361G>A FGF3(NM_005247.3):c.283C>T (p.R95W) - FGF3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.283C>T r.(?) p.(Arg95Trp) Parent #1 - pathogenic g.69631129G>A g.69816361G>A - - FGF3_000015 - MORL Deafness Variation Database, PubMed: Ordonez 1993, PubMed: Ramsebner 2010 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Ordonez 1993, PubMed: Ramsebner 2010 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.283C>T r.(?) p.(Arg95Trp) Parent #1 - likely pathogenic g.69631129G>A g.69816361G>A - - FGF3_000015 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs281860303 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.283C>T r.(?) p.(Arg95Trp) Unknown - likely pathogenic g.69631129G>A g.69816361G>A FGF3(NM_005247.3):c.283C>T (p.R95W) - FGF3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.303G>C r.(?) p.(Lys101Asn) Unknown - benign g.69631109C>G g.69816341C>G FGF3(NM_005247.3):c.303G>C (p.K101N) - FGF3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.310C>T r.(?) p.(Arg104*) Both (homozygous) - pathogenic (recessive) g.69631102G>A g.69816334G>A - - FGF3_000007 - PubMed: Tekin 2007 - - Germline yes - - - - DNA SEQ - - deafness FamB PubMed: Tekin 2007, PubMed: Tekin 2008 4-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - 3 Johan den Dunnen
+/. - c.310C>T r.(?) p.(Arg104*) Maternal (confirmed) - pathogenic (recessive) g.69631102G>A g.69816334G>A - - FGF3_000007 - PubMed: Sensi 2011 - - Germline - - - - - DNA SEQ - - deafness FamB PubMed: Sensi 2011 2-generation family, 1 affected (F), unaffected heterozygous carrier parents F no Italy - - - - - 1 Johan den Dunnen
+/. - c.310C>T r.(?) p.(Arg104*) Both (homozygous) - pathogenic (recessive) g.69631102G>A g.69816334G>A - - FGF3_000007 - PubMed: Riazuddin 2011 - - Germline yes - - - - DNA SEQ - - deafness FamPKDF295 PubMed: Riazuddin 2011 4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - 4 Johan den Dunnen
+/+ 2 c.310C>T r.(?) p.(Arg104*) Parent #1 - pathogenic g.69631102G>A g.69816334G>A - - FGF3_000007 - MORL Deafness Variation Database, PubMed: Tekin 2007, PubMed: Ordonez 1993, PubMed: Sensi 2011, PubMed: Riazuddin 2011 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Tekin 2007, PubMed: Ordonez 1993, PubMed: Sensi 2011, PubMed: Riazuddin 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.310dup r.(?) p.(Arg104ProfsTer24) Unknown - pathogenic g.69631102dup g.69816334dup FGF3(NM_005247.3):c.310dupC (p.R104Pfs*24) - FGF3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.310dup r.(?) p.(Arg104ProfsTer24) Unknown - likely pathogenic g.69631102dup - FGF3(NM_005247.3):c.310dupC (p.R104Pfs*24) - FGF3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.317A>G r.(?) p.(Tyr106Cys) Maternal (confirmed) - pathogenic (recessive) g.69631095T>C g.69816327T>C - - FGF3_000012 - PubMed: Sensi 2011 - - Germline yes - - - - DNA SEQ - - deafness FamA PubMed: Sensi 2011 2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents F;M no Italy Albania - - - - 2 Johan den Dunnen
+/+ 2 c.317A>G r.(?) p.(Tyr106Cys) Parent #1 - pathogenic g.69631095T>C g.69816327T>C - - FGF3_000012 - MORL Deafness Variation Database, PubMed: Ordonez 1993, PubMed: Sensi 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Ordonez 1993, PubMed: Sensi 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.325-3C>T r.spl? p.? Unknown - likely benign g.69625471G>A - FGF3(NM_005247.4):c.325-3C>T - FGF3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.368_384del r.(?) p.(Glu123ValfsTer11) Unknown - pathogenic g.69625412_69625428del g.69810644_69810660del FGF3(NM_005247.3):c.368_384delAGCTGGGCTATAATACG (p.E123Vfs*11) - FGF3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.394del r.(?) p.(Arg132Glyfs*26) Both (homozygous) - pathogenic (recessive) g.69625401del g.69810633del 394delC - FGF3_000016 - PubMed: Riazuddin 2011 - - Germline yes - - - - DNA SEQ - - deafness FamPKDF887 PubMed: Riazuddin 2011 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents F;M yes Pakistan - - - - - 3 Johan den Dunnen
+/+ 3 c.394del r.(?) p.(Arg132Glyfs*26) Parent #1 - pathogenic g.69625401del g.69810633del - - FGF3_000021 - MORL Deafness Variation Database, PubMed: Ordonez 1993, PubMed: Riazuddin 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Ordonez 1993, PubMed: Riazuddin 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.404G>A r.(?) p.(Arg135Gln) Unknown - VUS g.69625389C>T g.69810621C>T FGF3(NM_005247.3):c.404G>A (p.R135Q) - FGF3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.448G>A r.(?) p.(Glu150Lys) Unknown - VUS g.69625345C>T - FGF3(NM_005247.3):c.448G>A (p.E150K) - FGF3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.457_458del r.(?) p.(Trp153Valfs*51) Paternal (confirmed) - pathogenic (recessive) g.69625337_69625338del g.69810569_69810570del 457-458delTG - FGF3_000013 - PubMed: Sensi 2011 - - Germline yes - - - - DNA SEQ - - deafness FamA PubMed: Sensi 2011 2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents F;M no Italy Albania - - - - 2 Johan den Dunnen
+/+ 3 c.457_458del r.(?) p.(Trp153Valfs*51) Parent #1 - pathogenic g.69625337_69625338del g.69810569_69810570del - - FGF3_000020 - MORL Deafness Variation Database, PubMed: Ordonez 1993, PubMed: Sensi 2011 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Ordonez 1993, PubMed: Sensi 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.466T>C r.(?) p.(Ser156Pro) Both (homozygous) - pathogenic (recessive) g.69625327A>G g.69810559A>G - - FGF3_000006 - PubMed: Tekin 2007 - - Germline yes - - - - DNA SEQ - - deafness FamA PubMed: Tekin 2007, PubMed: Tekin 2008 5-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents/relatives F;M yes Turkey - - - - - 5 Johan den Dunnen
+/+ 3 c.466T>C r.(?) p.(Ser156Pro) Parent #1 - pathogenic g.69625327A>G g.69810559A>G - - FGF3_000006 - MORL Deafness Variation Database, PubMed: Tekin 2007, PubMed: Ordonez 1993 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Tekin 2007, PubMed: Ordonez 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.475G>C r.(?) p.(Gly159Arg) Unknown - VUS g.69625318C>G - FGF3(NM_005247.3):c.475G>C (p.G159R) - FGF3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.614G>A r.(?) p.(Gly205Glu) Unknown - VUS g.69625179C>T - FGF3(NM_005247.3):c.614G>A (p.G205E) - FGF3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.616del r.(?) p.(Val206Serfs*117) Both (homozygous) - pathogenic (recessive) g.69625181del g.69810413del 616delG - FGF3_000008 father not available PubMed: Tekin 2007 - - Germline/De novo (untested) - - - - - DNA SEQ - - deafness FamC PubMed: Tekin 2007, PubMed: Tekin 2008 2-generation family, 1 affected, unaffected heterozygous carrier mother/sib F - Turkey - - - - - 1 Johan den Dunnen
+/+ 3 c.616del r.(?) p.(Val206Serfs*117) Parent #1 - pathogenic g.69625181del g.69810413del - - FGF3_000019 - MORL Deafness Variation Database, PubMed: Tekin 2007, PubMed: Ordonez 1993 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Tekin 2007, PubMed: Ordonez 1993 - - - - - - - - - 1 Global Variome, with Curator vacancy
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