Full data view for gene KIF7

Information The variants shown are described using the NM_198525.2 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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.1895C>T r.(?) p.(Pro632Leu) Unknown - VUS g.90189151G>A g.89645920G>A KIF7(NM_198525.2):c.1895C>T (p.P632L), KIF7(NM_198525.3):c.1895C>T (p.P632L) - KIF7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1895C>T r.(?) p.(Pro632Leu) Unknown - likely benign g.90189151G>A - KIF7(NM_198525.2):c.1895C>T (p.P632L), KIF7(NM_198525.3):c.1895C>T (p.P632L) - KIF7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2105G>A r.(?) p.(Arg702Gln) Unknown - VUS g.90188330C>T - KIF7(NM_198525.3):c.2105G>A (p.R702Q) - KIF7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2501A>G r.(?) p.(Gln834Arg) Unknown - VUS g.90177008T>C g.89633777T>C KIF7(NM_198525.2):c.2501A>G (p.Q834R, p.(Gln834Arg)), KIF7(NM_198525.3):c.2501A>G (p.Q834R) - KIF7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2501A>G r.(?) p.(Gln834Arg) Unknown - likely benign g.90177008T>C g.89633777T>C KIF7(NM_198525.2):c.2501A>G (p.Q834R, p.(Gln834Arg)), KIF7(NM_198525.3):c.2501A>G (p.Q834R) - KIF7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2501A>G r.(?) p.(Gln834Arg) Parent #1 - likely benign g.90177008T>C g.89633777T>C - - KIF7_000001 15 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs138354681 Germline - 15/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 15 Mohammed Faruq
+?/. - c.2501A>G r.(?) p.(Gln834Arg) Parent #1 - likely pathogenic (recessive) g.90177008T>C g.89633777T>C - - KIF7_000001 - PubMed: Bryant 2018 - rs138354681 Germline - - - - - DNA SEQ-NG - WES retinal disease JB307 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
?/. - c.2501A>G r.(?) p.(Gln834Arg) Unknown - VUS g.94505604A>C g.89633777T>C A2501A>G - KIF7_000001 - PubMed: Bryant 2018 - rs138354681 Germline - - - - - DNA SEQ-NG - WES retinal disease JB274 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
-?/. - c.2501A>G r.(?) p.(Gln834Arg) Unknown - likely benign g.90177008T>C - KIF7(NM_198525.2):c.2501A>G (p.Q834R, p.(Gln834Arg)), KIF7(NM_198525.3):c.2501A>G (p.Q834R) - KIF7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 15 c.2896_2897del r.(?) p.(Ala966Profs*81) Parent #1 - likely pathogenic g.90174940_90174941del g.89631709_89631710del Ala966ProfsX81 - KIF7_000001 - PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - ANPH - PubMed: Putoux 2011 consanguineous family ? yes Algeria - - - - - 4 Tania Attie-Bitach
+?/? 15 c.2896_2897del r.(?) p.(Ala966Profs*81) Parent #1 - likely pathogenic g.90174940_90174941del g.89631709_89631710del Ala966ProfsX81 - KIF7_000001 - PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - ANPH - PubMed: Putoux 2011 consanguineous family ? yes Algeria - - - - - 4 Tania Attie-Bitach
+?/? 15 c.2896_2897del r.(?) p.(Ala966Profs*81) Parent #1 - likely pathogenic g.90174940_90174941del g.89631709_89631710del Ala966ProfsX81 - KIF7_000001 - PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - HYDRO - PubMed: Putoux 2011 consanguineous family ? yes Algeria - - - - - 4 Tania Attie-Bitach
+?/? 15 c.2896_2897del r.(?) p.(Ala966Profs*81) Parent #1 - likely pathogenic g.90174940_90174941del g.89631709_89631710del Ala966ProfsX81 - KIF7_000001 - PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - HYDRO - PubMed: Putoux 2011 consanguineous family ? yes Algeria - - - - - 4 Tania Attie-Bitach
+?/? 15 c.2896_2897del r.(?) p.(Ala966Profs*81) Parent #1 - likely pathogenic g.90190209_90190210delinsA - Ala966ProfsX81 - KIF7_000001 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - ACLS;JBTS12 - PubMed: Putoux 2011 consanguineous family ? yes Algeria - - - - - 1 Tania Attie-Bitach
+?/? 15 c.2896_2897del r.(?) p.(Ala966Profs*81) Parent #2 - likely pathogenic g.90172778G>C - Ala966ProfsX81 - KIF7_000001 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - ANPH - PubMed: Putoux 2011 consanguineous family ? yes Algeria - - - - - 4 Tania Attie-Bitach
+?/? 15 c.2896_2897del r.(?) p.(Ala966Profs*81) Parent #2 - likely pathogenic g.90177008T>C - Ala966ProfsX81 - KIF7_000001 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - ANPH - PubMed: Putoux 2011 consanguineous family ? yes Algeria - - - - - 4 Tania Attie-Bitach
+?/? 15 c.2896_2897del r.(?) p.(Ala966Profs*81) Parent #2 - likely pathogenic g.90189151G>A - Ala966ProfsX81 - KIF7_000001 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - HYDRO - PubMed: Putoux 2011 consanguineous family ? yes Algeria - - - - - 4 Tania Attie-Bitach
+?/? 15 c.2896_2897del r.(?) p.(Ala966Profs*81) Parent #2 - likely pathogenic g.90188330C>T - Ala966ProfsX81 - KIF7_000001 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - HYDRO - PubMed: Putoux 2011 consanguineous family ? yes Algeria - - - - - 4 Tania Attie-Bitach
+?/? 15 c.2896_2897del r.(?) p.(Ala966Profs*81) Parent #2 - likely pathogenic g.90177008T>C - Ala966ProfsX81 - KIF7_000001 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Putoux 2011 - - Germline - - - - - DNA SEQ - - ACLS;JBTS12 - PubMed: Putoux 2011 consanguineous family ? yes Algeria - - - - - 1 Tania Attie-Bitach
?/. - c.2896_2897del r.(?) p.(Ala966ProfsTer81) Unknown - VUS g.90174940_90174941del g.89631709_89631710del KIF7(NM_198525.2):c.2896_2897del (p.(Ala966ProfsTer81)) - KIF7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2896_2897del r.(?) p.(Ala966Profs*81) Both (homozygous) ACMG pathogenic g.90174940_90174941del g.89631709_89631710del - - KIF7_000001 ACMG PVS1, PM2, PP1 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 11DG1301 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - 1 Johan den Dunnen
?/. - c.3345C>G r.(?) p.(His1115Gln) Unknown - VUS g.90172778G>C g.89629547G>C KIF7(NM_198525.2):c.3345C>G (p.H1115Q, p.(His1115Gln)), KIF7(NM_198525.3):c.3345C>G (p.H1115Q) - KIF7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3345C>G r.(?) p.(His1115Gln) Unknown - benign g.90172778G>C g.89629547G>C KIF7(NM_198525.2):c.3345C>G (p.H1115Q, p.(His1115Gln)), KIF7(NM_198525.3):c.3345C>G (p.H1115Q) - KIF7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3345C>G r.(?) p.(His1115Gln) Unknown - benign g.90172778G>C g.89629547G>C KIF7(NM_198525.2):c.3345C>G (p.H1115Q, p.(His1115Gln)), KIF7(NM_198525.3):c.3345C>G (p.H1115Q) - KIF7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3345C>G r.(?) p.(His1115Gln) Unknown - benign g.90172778G>C g.89629547G>C KIF7(NM_198525.2):c.3345C>G (p.H1115Q, p.(His1115Gln)), KIF7(NM_198525.3):c.3345C>G (p.H1115Q) - KIF7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3345C>G r.(?) p.(His1115Gln) Unknown - benign g.90172778G>C g.89629547G>C KIF7(NM_198525.2):c.3345C>G (p.H1115Q, p.(His1115Gln)), KIF7(NM_198525.3):c.3345C>G (p.H1115Q) - KIF7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3345C>G r.(?) p.(His1115Gln) Parent #2 - likely pathogenic (recessive) g.90172778G>C g.89629547G>C - - KIF7_000001 - PubMed: Bryant 2018 - rs142032413 Germline - - - - - DNA SEQ-NG - WES retinal disease JB307 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
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