Full data view for gene KYNU

Information The variants shown are described using the NM_003937.2 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.-130_(729+923_730-1)[0] r.0? p.0? Maternal (confirmed) - pathogenic (recessive) g.(?_143634577)_(143719262_143805643)del - arr[GRCh37]2q22.2(143,634,577-143,719,262)x1 - KYNU_000009 85 kb deletion PubMed: Ehmke 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CATMANS Pat1 PubMed: Ehmke 2020 - M - - Caribbean - - - - 1 Johan den Dunnen
-?/. - c.74C>T r.(?) p.(Thr25Met) Unknown - likely benign g.143643010C>T - KYNU(NM_003937.3):c.74C>T (p.T25M) - KYNU_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.170-1G>T r.spl p.(Val57Glufs*21) Both (homozygous) - pathogenic (recessive) g.143676177G>T g.142918608G>T - - KYNU_000002 - PubMed: Shi 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamC PubMed: Shi 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes United Kingdom (Great Britain) Lebanon - - - - 1 Johan den Dunnen
+/. - c.256dup r.(?) p.(Tyr86Leufs*3) Unknown - pathogenic g.143676264dup - KYNU(NM_003937.2):c.256dupT (p.(Tyr86fs)), KYNU(NM_003937.3):c.256dupT (p.Y86Lfs*3) - KYNU_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.256dup r.(?) p.(Tyr86Leufs*3) Unknown - likely pathogenic g.143676264dup - KYNU(NM_003937.2):c.256dupT (p.(Tyr86fs)), KYNU(NM_003937.3):c.256dupT (p.Y86Lfs*3) - KYNU_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.326G>C r.(?) p.(Trp109Ser) Both (homozygous) - pathogenic (recessive) g.143685263G>C g.142927694G>C - - KYNU_000006 - PubMed: Ehmke 2020 - rs780720490 Germline - - - - - DNA SEQ, SEQ-NG - WES CATMANS Pat3 PubMed: Ehmke 2020 - F yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.361_363del r.(?) p.(Lys121del) Paternal (confirmed) - pathogenic (recessive) g.143685298_143685300del g.142927729_142927731del - - KYNU_000016 - PubMed: Szot 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? Fam6 PubMed: Szot 2021 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - 1 Johan den Dunnen
?/. - c.427C>A r.(?) p.(Leu143Ile) Unknown - VUS g.143712432C>A - KYNU(NM_003937.3):c.427C>A (p.(Leu143Ile)) - KYNU_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.468T>A r.(?) p.(Tyr156*) Paternal (confirmed) - pathogenic (recessive) g.143713804T>A g.142956235T>A - - KYNU_000003 - PubMed: Shi 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamD PubMed: Shi 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - 1 Johan den Dunnen
+/. - c.489del r.(?) p.(Ala164Profs*26) Paternal (confirmed) - pathogenic (recessive) g.143713825del g.142956256del - - KYNU_000015 - PubMed: Szot 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - trio WES ? Fam7PatII2 PubMed: Szot 2021 2-generation family, affected brother/sister, unaffected heterozygous parents F - - - - - - - 2 Johan den Dunnen
-?/. - c.508-18A>G r.(=) p.(=) Unknown - likely benign g.143715192A>G - KYNU(NM_003937.3):c.508-18A>G - KYNU_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.583-6A>G r.(=) p.(=) Unknown - likely benign g.143718187A>G - KYNU(NM_003937.3):c.583-6A>G - KYNU_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.592A>G r.592a>g p.Thr198Ala Both (homozygous) - pathogenic (recessive) g.143718202A>G g.142960633A>G 593A>G (T198A) - KYNU_000005 - PubMed: Christensen 2007 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - hydroxykynureninuria? family PubMed: Christensen 2007 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Denmark - - - - - 2 Johan den Dunnen
?/. - c.616G>A r.(?) p.(Glu206Lys) Both (homozygous) - VUS g.143718226G>A g.142960657G>A - - KYNU_000014 - PubMed: Szot 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? F5;FamPat5 PubMed: Szot 2021, PubMed: Guo 2023 2-generation family, 1 affected, unaffected non-carrier parents F no - - - - - - 1 Johan den Dunnen
-?/. - c.729+9G>A r.(=) p.(=) Unknown - likely benign g.143718348G>A - KYNU(NM_003937.3):c.729+9G>A - KYNU_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.729+20C>A r.(=) p.(=) Unknown - likely benign g.143718359C>A - KYNU(NM_003937.3):c.729+20C>A - KYNU_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.788A>G r.(?) p.(His263Arg) Both (homozygous) - pathogenic (recessive) g.143742711A>G g.142985142A>G - - KYNU_000018 - PubMed: Szot 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? Fam4 PubMed: Szot 2021 2-generation family, 1 affected, unaffected heterozygous parents/relatives, unaffected carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.902+1G>A r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.143743591G>A - - - KYNU_000010 - - - rs754953201 Germline yes - - - - DNA SEQ - - CATMANS - - - - - (Brazil) - - - - - 1 Cynthia Silveira
+?/. - c.902+1G>A r.spl? p.? Unknown - likely pathogenic g.143743591G>A - KYNU(NM_003937.3):c.902+1G>A - KYNU_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.988C>T r.(?) p.(Arg330Ter) Unknown - pathogenic g.143790837C>T g.143033268C>T KYNU(NM_001199241.1):c.988C>T (p.R330*) - KYNU_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.989G>A r.(?) p.(Arg330Gln) Both (homozygous) - pathogenic (recessive) g.143790838G>A g.143033269G>A - - KYNU_000007 - PubMed: Ehmke 2020 - rs142934146 Germline - - - - - DNA SEQ, SEQ-NG - WES CATMANS Pat2 PubMed: Ehmke 2020 - F yes Turkey - - - - - 1 Johan den Dunnen
+?/. - c.989G>A r.(?) p.(Arg330Gln) Unknown - likely pathogenic g.143790838G>A - KYNU(NM_003937.3):c.989G>A (p.(Arg330Gln)) - KYNU_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.989G>A r.(?) p.(Arg330Gln) Unknown - pathogenic g.143790838G>A - KYNU(NM_003937.3):c.989G>A (p.(Arg330Gln)) - KYNU_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1035T>A r.(?) p.(Ser345Arg) Maternal (confirmed) - pathogenic (recessive) g.143790884T>A g.143033315T>A - - KYNU_000017 - PubMed: Szot 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES ? Fam6 PubMed: Szot 2021 2-generation family, 1 affected, unaffected heterozygous parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1045_1051del r.(?) p.(Phe349Lysfs*4) Maternal (confirmed) - pathogenic (recessive) g.143798000_143798006del g.143040431_143040437del 1045_1051delTTTAAGC - KYNU_000004 {CV:SCV000540923} PubMed: Shi 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamD PubMed: Shi 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - 1 Johan den Dunnen
+/. - c.1282C>T r.(?) p.(Arg428Trp) Paternal (inferred) - pathogenic (recessive) g.143799625C>T g.143042056C>T - - KYNU_000008 father not available PubMed: Ehmke 2020 - rs147475752 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CATMANS Pat1 PubMed: Ehmke 2020 - M - - Caribbean - - - - 1 Johan den Dunnen
+/. - c.1282C>T r.(?) p.(Arg428Trp) Maternal (confirmed) - pathogenic (recessive) g.143799625C>T g.143042056C>T - - KYNU_000008 - PubMed: Szot 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - trio WES ? Fam7PatII2 PubMed: Szot 2021 2-generation family, affected brother/sister, unaffected heterozygous parents F - - - - - - - 2 Johan den Dunnen
+?/. - c.1301G>A r.(?) p.(Arg434Gln) Unknown - likely pathogenic g.143799644G>A - KYNU(NM_003937.2):c.1301G>A (p.(Arg434Gln)) - KYNU_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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