Full data view for gene TTI1

Information The variants shown are described using the NM_001303457.2 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.-41-5291_-41-5290del r.(=) p.(=) Unknown - likely benign g.36647562_36647563del - TTI1(NM_014657.3):c.-181-4_-181-3del - TTI1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.106C>T r.(?) p.(Arg36Ter) Maternal (confirmed) - pathogenic (recessive) g.36642113G>A g.38013711G>A - - TTI1_000021 - PubMed: Serey-Gaut 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS NDD Fam8Pat10(II2) PubMed: Serey-Gaut 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Europe - - - - 1 Johan den Dunnen
?/. - c.484G>A r.(?) p.(Ala162Thr) Unknown - VUS g.36641735C>T - TTI1(NM_001303457.2):c.484G>A (p.(Ala162Thr)), TTI1(NM_014657.3):c.484G>A (p.A162T) - TTI1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.484G>A r.(?) p.(Ala162Thr) Unknown - likely benign g.36641735C>T - TTI1(NM_001303457.2):c.484G>A (p.(Ala162Thr)), TTI1(NM_014657.3):c.484G>A (p.A162T) - TTI1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.629dup r.(?) p.(Leu210PhefsTer17) Maternal (confirmed) - pathogenic (recessive) g.36641595dup g.38013193dup - - TTI1_000020 - PubMed: Serey-Gaut 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam6Pat8(II1) PubMed: Serey-Gaut 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Europe - - - - 1 Johan den Dunnen
?/. - c.748G>A r.(?) p.(Glu250Lys) Both (homozygous) - VUS g.36641471C>T g.38013069C>T - - TTI1_000002 ACMG PP3 PubMed: Charng 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam058PatBAB6950 PubMed: Charng 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.835T>G r.(?) p.(Trp279Gly) Maternal (confirmed) - pathogenic (recessive) g.36641384A>C g.38012982A>C - - TTI1_000019 - PubMed: Serey-Gaut 2023 - - Germline - - - - - DNA SEQ - - NDD Fam3Pat4(II2) PubMed: Serey-Gaut 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) Europe - - - - 1 Johan den Dunnen
+/. - c.835T>G r.(?) p.(Trp279Gly) Maternal (confirmed) - pathogenic (recessive) g.36641384A>C g.38012982A>C - - TTI1_000019 - PubMed: Serey-Gaut 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam2Pat3(II1) PubMed: Serey-Gaut 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Argentina;Australia - - - - - 1 Johan den Dunnen
?/. - c.853G>A r.(?) p.(Asp285Asn) Unknown - VUS g.36641366C>T - TTI1(NM_014657.3):c.853G>A (p.D285N) - TTI1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1204T>C r.(?) p.(Ser402Pro) Paternal (confirmed) - pathogenic (recessive) g.36641015A>G g.38012613A>G - - TTI1_000018 - PubMed: Serey-Gaut 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam7Pat9(II2) PubMed: Serey-Gaut 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Mexico - - - - - 1 Johan den Dunnen
?/. - c.1244T>C r.(?) p.(Ile415Thr) Unknown - VUS g.36640975A>G - TTI1(NM_014657.3):c.1244T>C (p.I415T) - TTI1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1271A>G r.(?) p.(His424Arg) Paternal (confirmed) - pathogenic (recessive) g.36640948T>C g.38012546T>C - - TTI1_000017 - PubMed: Serey-Gaut 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam6Pat8(II1) PubMed: Serey-Gaut 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Europe - - - - 1 Johan den Dunnen
+/. - c.1468C>T r.(?) p.(Gln490Ter) Paternal (confirmed) - pathogenic (recessive) g.36640751G>A g.38012349G>A - - TTI1_000016 - PubMed: Serey-Gaut 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam9Pat11(II1) PubMed: Serey-Gaut 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - Africa-N - - - - 1 Johan den Dunnen
+/. - c.1901T>C r.(?) p.(Ile634Thr) Maternal (confirmed) - pathogenic (recessive) g.36640318A>G g.38011916A>G - - TTI1_000015 - PubMed: Serey-Gaut 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam9Pat11(II1) PubMed: Serey-Gaut 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - Africa-N - - - - 1 Johan den Dunnen
?/. - c.1996C>T r.(?) p.(Leu666Phe) Unknown - VUS g.36640223G>A - TTI1(NM_001303457.2):c.1996C>T (p.(Leu666Phe)) - TTI1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2089T>C r.(?) p.(Tyr697His) Unknown - VUS g.36640130A>G - TTI1(NM_014657.3):c.2089T>C (p.Y697H) - TTI1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2300T>C r.(?) p.(Leu767Ser) Both (homozygous) - pathogenic (recessive) g.36639919A>G g.38011517A>G - - TTI1_000014 - PubMed: Serey-Gaut 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam1Pat1(IV2) PubMed: Serey-Gaut 2023 4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Turkey - - - - - 2 Johan den Dunnen
+/. - c.2300T>C r.(?) p.(Leu767Ser) Both (homozygous) - pathogenic (recessive) g.36639919A>G g.38011517A>G - - TTI1_000014 - PubMed: Serey-Gaut 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam1Pat2(IV3) PubMed: Serey-Gaut 2023 brother M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.2302+1G>T r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.36639916C>A g.38011514C>A - - TTI1_000013 - PubMed: Serey-Gaut 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam2Pat3(II1) PubMed: Serey-Gaut 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Argentina;Australia - - - - - 1 Johan den Dunnen
+/. - c.2513C>T r.(?) p.(Ser838Leu) Maternal (confirmed) - pathogenic (recessive) g.36631169G>A g.38002767G>A - - TTI1_000012 - PubMed: Serey-Gaut 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4Pat5(II3) PubMed: Serey-Gaut 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Europe - - - - 1 Johan den Dunnen
?/. - c.2644C>T r.(?) p.(Arg882Cys) Unknown - VUS g.36631038G>A - TTI1(NM_014657.3):c.2644C>T (p.R882C) - TTI1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2761G>A r.(?) p.(Asp921Asn) Both (homozygous) - pathogenic g.36627622C>T g.37999220C>T NM_014657:G2761A (D921N) - TTI1_000001 - PubMed: Karaca 2015 - - Germline - - - - - DNA SEQ-NG-I - WES ? 26539891-FamBAB4452 PubMed: Karaca 2015 - - - - - - - family structure in paper - 1 Johan den Dunnen
+/. - c.2761G>A r.(?) p.(Asp921Asn) Both (homozygous) - pathogenic (recessive) g.36627622C>T g.37999220C>T - - TTI1_000001 - PubMed: Serey-Gaut 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam5Pat6(III5) PubMed: Serey-Gaut 2023 3-generation family, 4 affected 2F, 2M), unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - 4 Johan den Dunnen
+/. - c.2761G>A r.(?) p.(Asp921Asn) Both (homozygous) - pathogenic (recessive) g.36627622C>T g.37999220C>T - - TTI1_000001 - PubMed: Serey-Gaut 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam5Pat7(III6) PubMed: Serey-Gaut 2023 brother M yes Turkey - - - - - 1 Johan den Dunnen
?/. - c.2780T>G r.(?) p.(Leu927Arg) Unknown - VUS g.36627603A>C - TTI1(NM_014657.3):c.2780T>G (p.L927R) - TTI1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2834G>A r.(?) p.(Arg945His) Unknown - VUS g.36625315C>T - TTI1(NM_001303457.2):c.2834G>A (p.(Arg945His)) - TTI1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2930C>T r.(?) p.(Thr977Met) Unknown - VUS g.36625219G>A - TTI1(NM_001303457.2):c.2930C>T (p.(Thr977Met)) - TTI1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2978T>G r.(?) p.(Leu993Arg) Paternal (confirmed) - pathogenic (recessive) g.36625171A>C g.37996769A>C - - TTI1_000011 - PubMed: Serey-Gaut 2023 - - Germline - - - - - DNA SEQ - - NDD Fam3Pat4(II2) PubMed: Serey-Gaut 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United Kingdom (Great Britain) Europe - - - - 1 Johan den Dunnen
+/. - c.2998G>C r.(?) p.(Gly1000Arg) Maternal (confirmed) - pathogenic (recessive) g.36625151C>G g.37996749C>G - - TTI1_000010 - PubMed: Serey-Gaut 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam7Pat9(II2) PubMed: Serey-Gaut 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Mexico - - - - - 1 Johan den Dunnen
+/. - c.2998+2T>C r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.36625149A>G g.37996747A>G - - TTI1_000009 - PubMed: Serey-Gaut 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4Pat5(II3) PubMed: Serey-Gaut 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Europe - - - - 1 Johan den Dunnen
+/. - c.3241G>A r.(?) p.(Val1081Met) Paternal (confirmed) - pathogenic (recessive) g.36611887C>T g.37983485C>T - - TTI1_000008 - PubMed: Serey-Gaut 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS NDD Fam8Pat10(II2) PubMed: Serey-Gaut 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - Europe - - - - 1 Johan den Dunnen
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