Full data view for gene TFG

Information The variants shown are described using the NM_001007565.2 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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     

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Owner     
?/. - c.-2944954_*13486105del r.0? p.0? Unknown ACMG VUS g.97483365_113953480del g.97764521_114234636del chr3, g.97483365_113953480del, arr([GRCh37] 3q11.2q13.31(97483365_113953480)x1), heterozygous - IMPG2_000140 no gene indicated in publication! PubMed: Perea-Romero 2021 - - Unknown ? - - - - DNA ? - clinical exome sequencing retinal disease RP-3055 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
+/. 1 c.64C>T r.(?) p.(Arg22Trp) Both (homozygous) - pathogenic g.100432593C>T g.100713749C>T - - TFG_000001 - - - - Germline yes - - - - DNA SEQ, SEQ-NG-I - - SPG57 - - homozygous in three affected siblings, heterozygous in parents and one sibling, not present in one healthy sibling F yes (France);Sudan - - - yes - 3 Mahmoud Koko
?/. - c.68G>A r.(?) p.(Arg23Gln) Unknown - VUS g.100432597G>A g.100713753G>A TFG(NM_001195479.1):c.68G>A (p.R23Q), TFG(NM_006070.6):c.68G>A (p.R23Q) - TFG_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.68G>A r.(?) p.(Arg23Gln) Unknown - VUS g.100432597G>A - TFG(NM_001195479.1):c.68G>A (p.R23Q), TFG(NM_006070.6):c.68G>A (p.R23Q) - TFG_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.177A>G r.(?) p.(Lys59=) Unknown - likely benign g.100432706A>G g.100713862A>G TFG(NM_006070.6):c.177A>G (p.K59=) - TFG_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.184+11T>C r.(=) p.(=) Unknown - likely benign g.100432724T>C g.100713880T>C TFG(NM_006070.6):c.184+11T>C - TFG_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.185-10del r.(=) p.(=) Unknown - benign g.100438809del g.100719965del TFG(NM_006070.6):c.185-10delT - TFG_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.185-10dup r.(=) p.(=) Unknown - benign g.100438809dup g.100719965dup TFG(NM_006070.6):c.185-10dupT - TFG_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.185-10dup r.(=) p.(=) Unknown - benign g.100438809dup - TFG(NM_006070.6):c.185-10dupT - TFG_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.225C>G r.(?) p.(Ser75=) Unknown - likely benign g.100438859C>G - TFG(NM_001195479.2):c.225C>G (p.S75=), TFG(NM_006070.6):c.225C>G (p.S75=) - TFG_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.225C>G r.(?) p.(Ser75=) Unknown - likely benign g.100438859C>G - TFG(NM_001195479.2):c.225C>G (p.S75=), TFG(NM_006070.6):c.225C>G (p.S75=) - TFG_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.258G>T r.(?) p.(Leu86=) Unknown - benign g.100438892G>T - TFG(NM_001195479.2):c.258G>T (p.L86=), TFG(NM_006070.6):c.258G>T (p.L86=) - TFG_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.258G>T r.(?) p.(Leu86=) Unknown - likely benign g.100438892G>T - TFG(NM_001195479.2):c.258G>T (p.L86=), TFG(NM_006070.6):c.258G>T (p.L86=) - TFG_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.316C>T r.(?) p.(Arg106Cys) Unknown - pathogenic g.100447603C>T g.100728759C>T - - TFG_000002 - - - - Germline yes - - - - DNA SEQ leukocytes - SPG57 - Harlalka et al, submitted to Human Mutation in 2016 - F ? India - - - - - 1 Christian Beetz
+/. 4 c.316C>T r.(?) p.(Arg106Cys) Both (homozygous) - pathogenic g.100447603C>T g.100728759C>T - - TFG_000002 - - - - Germline yes - - - - DNA SEQ leukocytes - SPG57 - Harlalka et al, submitted to Human Mutation in 2016 - F ? India - - - - - 1 Christian Beetz
+?/. - c.316C>T r.(?) p.(Arg106Cys) Unknown - likely pathogenic g.100447603C>T g.100728759C>T - - TFG_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.317G>A r.(?) p.(Arg106His) Both (homozygous) - pathogenic g.100447604G>A g.100728760G>A - - TFG_000003 - - - - Germline yes - - - - DNA SEQ-NG leukocytes - SPG57 - Harlalka et al, submitted to Human Mutation in 2016 - F yes Pakistan - - - - - 1 Christian Beetz
+/. 4 c.317G>A r.(?) p.(Arg106His) Both (homozygous) - pathogenic g.100447604G>A g.100728760G>A - - TFG_000003 - - - - Germline yes - - - - DNA SEQ leukocytes - SPG57 - Harlalka et al, submitted to Human Mutation in 2016 - M yes Pakistan - - - - - 1 Christian Beetz
+/. 4 c.317G>A r.(?) p.(Arg106His) Both (homozygous) - pathogenic g.100447604G>A g.100728760G>A - - TFG_000003 - - - - Germline yes - - - - DNA SEQ leukocytes - SPG57 - Harlalka et al, submitted to Human Mutation in 2016 - F yes Pakistan - - - - - 1 Christian Beetz
+/. 4 c.317G>A r.(?) p.(Arg106His) Both (homozygous) - pathogenic g.100447604G>A g.100728760G>A - - TFG_000003 - - - - Germline yes - - - - DNA SEQ leukocytes - SPG57 - Harlalka et al, submitted to Human Mutation in 2016 - F yes Pakistan - - - - - 1 Christian Beetz
?/. - c.320G>C r.(?) p.(Arg107Pro) Both (homozygous) ACMG VUS g.100447607G>C g.100728763G>C - - TFG_000019 ACMG PM2, PP3, PP1 PubMed: Maddirevula 2019 - - Germline - - - - - DNA SEQ-NG - WES ? 17-1906 PubMed: Maddirevula 2019 - F - - - - - - - 1 Johan den Dunnen
-/. - c.415+16A>G r.(=) p.(=) Unknown - benign g.100447718A>G g.100728874A>G TFG(NM_006070.6):c.415+16A>G - TFG_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.415+16A>G r.(=) p.(=) Unknown - likely benign g.100447718A>G - TFG(NM_006070.6):c.415+16A>G - TFG_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.416-9T>C r.(=) p.(=) Unknown - benign g.100451343T>C - TFG(NM_006070.6):c.416-9T>C - TFG_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.428G>A r.(?) p.(Gly143Asp) Unknown - VUS g.100451364G>A g.100732520G>A TFG(NM_001195479.1):c.428G>A (p.G143D) - TFG_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.550G>A r.(?) p.(Ala184Thr) Unknown - VUS g.100451486G>A - TFG(NM_006070.6):c.550G>A (p.A184T) - TFG_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.552G>A r.(?) p.(Ala184=) Unknown - benign g.100451488G>A g.100732644G>A TFG(NM_006070.6):c.552G>A (p.A184=) - TFG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.594T>G r.(?) p.(Ala198=) Unknown - likely benign g.100455433T>G g.100736589T>G TFG(NM_006070.6):c.594T>G (p.A198=) - TFG_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.621C>T r.(?) p.(Pro207=) Unknown - likely benign g.100455460C>T g.100736616C>T TFG(NM_006070.6):c.621C>T (p.P207=) - TFG_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.664G>A r.(?) p.(Val222Ile) Unknown - likely benign g.100455503G>A g.100736659G>A TFG(NM_006070.6):c.664G>A (p.V222I) - TFG_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.721+14T>G r.(=) p.(=) Unknown - likely benign g.100455574T>G g.100736730T>G TFG(NM_006070.6):c.721+14T>G - TFG_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.722-8G>T r.(=) p.(=) Unknown - benign g.100463669G>T g.100744825G>T TFG(NM_006070.6):c.722-8G>T - TFG_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.846T>C r.(?) p.(Pro282=) Unknown - benign g.100467018T>C g.100748174T>C TFG(NM_006070.6):c.846T>C (p.P282=) - TFG_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.846T>C r.(?) p.(Pro282=) Unknown - benign g.100467018T>C g.100748174T>C TFG(NM_006070.6):c.846T>C (p.P282=) - TFG_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.945G>A r.(?) p.(Pro315=) Unknown - benign g.100467117G>A g.100748273G>A TFG(NM_006070.6):c.945G>A (p.P315=) - ABI3BP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1016A>G r.(?) p.(Tyr339Cys) Unknown - VUS g.100467188A>G - TFG(NM_006070.6):c.1016A>G (p.Y339C) - ABI3BP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1060C>G r.(?) p.(Pro354Ala) Unknown - VUS g.100467232C>G g.100748388C>G TFG(NM_001195479.1):c.1048C>G (p.P350A), TFG(NM_006070.6):c.1060C>G (p.P354A) - ABI3BP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1060C>G r.(?) p.(Pro354Ala) Unknown - likely benign g.100467232C>G - TFG(NM_001195479.1):c.1048C>G (p.P350A), TFG(NM_006070.6):c.1060C>G (p.P354A) - ABI3BP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1060C>G r.(?) p.(Pro354Ala) Unknown - likely benign g.100467232C>G - TFG(NM_001195479.1):c.1048C>G (p.P350A), TFG(NM_006070.6):c.1060C>G (p.P354A) - ABI3BP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1060C>G r.(?) p.(Pro354Ala) Unknown - benign g.100467232C>G - TFG(NM_001195479.1):c.1048C>G (p.P350A), TFG(NM_006070.6):c.1060C>G (p.P354A) - ABI3BP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1090A>C r.(?) p.(Thr364Pro) Unknown - likely benign g.100467262A>C - TFG(NM_006070.6):c.1090A>C (p.T364P) - ABI3BP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1090A>C r.(?) p.(Thr364Pro) Unknown - benign g.100467262A>C - TFG(NM_006070.6):c.1090A>C (p.T364P) - ABI3BP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1157C>T r.(?) p.(Pro386Leu) Unknown - VUS g.100467329C>T - TFG(NM_001195479.2):c.1145C>T (p.P382L) - ABI3BP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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