Full data view for gene FLAD1

Information The variants shown are described using the NM_025207.4 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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.-292_-291del r.(?) p.(=) Unknown - likely benign g.154955879_154955880del g.154983403_154983404del FLAD1(NM_001184891.1):c.-145+3_-145+4del (p.(=)) - FLAD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.210dup r.(?) p.(Gly71Argfs*31) Unknown - VUS g.154956380dup - FLAD1(NM_025207.5):c.210dup (p.(Gly71ArgfsTer31)) - CKS1B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.324del r.(?) p.(Arg109Alafs*3) Paternal (confirmed) - pathogenic (recessive) g.154956494del g.154984018del 324delG - FLAD1_000006 - PubMed: Olsen 2016 - - Germline - - - - - DNA SEQ - - MADD Fam6 PubMed: Olsen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
?/. - c.363G>T r.(?) p.(Glu121Asp) Unknown - VUS g.154956533G>T g.154984057G>T FLAD1(NM_001184891.1):c.72G>T (p.(Glu24Asp)) - FLAD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.401_404del r.(?) p.(Phe134Cysfs*8) Both (homozygous) - pathogenic (recessive) g.154960609_154960612del g.154988133_154988136del 401_404delTTCT - FLAD1_000009 - PubMed: Olsen 2016 - - Germline - - - - - DNA SEQ - - MADD Fam5 PubMed: Olsen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - - - - - 1 Johan den Dunnen
+/. - c.401_404del r.(?) p.(Phe134Cysfs*8) Both (homozygous) - pathogenic (recessive) g.154960609_154960612del g.154988133_154988136del 401_404delTTCT - FLAD1_000009 - PubMed: Olsen 2016 - - Germline - - - - - DNA SEQ - - MADD Fam7 PubMed: Olsen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - 1 Johan den Dunnen
+?/. - c.401_404del r.(?) p.(Phe134Cysfs*8) Both (homozygous) - likely pathogenic g.154960609_154960612del g.154988133_154988136del 397_400delTTCT - FLAD1_000005 - PubMed: Taylor 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Pat30 PubMed: Taylor 2014, DB Barth Syndrome Foundation 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - 00y08m - - - 1 Johan den Dunnen
+?/. - c.401_404del r.(?) p.(Phe134Cysfs*8) Both (homozygous) - likely pathogenic (recessive) g.154960609_154960612del g.154988133_154988136del c.397_400 delTTCT - FLAD1_000009 - PubMed: Taylor 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat30 PubMed: Kemp 2011, PubMed: Taylor 2014 - M yes Turkey - 8m - - - 1 Johan den Dunnen
+/. - c.401_404del r.(?) p.(Phe134CysfsTer8) Both (homozygous) - pathogenic (recessive) g.154960609_154960612del g.154988133_154988136del 401_404delTTCT - FLAD1_000005 - PubMed: Yildiz 2018 - - Germline yes - - - - DNA SEQ - - hypotonia family PubMed: Yildiz 2018 2-generation family, affected, brother/sister unaffected heterozygous carrier parents F;M yes Turkey - - - - - 1 Johan den Dunnen
+/. 2 c.442C>T r.(?) p.(Arg148*) Maternal (confirmed) - pathogenic (recessive) g.154960650C>T g.154988174C>T - - FLAD1_000003 - PubMed: Muru 2019, Journal: Muru 2019 - - Germline - - - - - DNA SEQ-NG-I blood WES LSMFLAD patient PubMed: Muru 2019, Journal: Muru 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Estonia - >01y03m - - - 1 Sander Pajusalu
+/. - c.498del r.(?) p.(Ser167Profs*20) Maternal (confirmed) - pathogenic (recessive) g.154960706del g.154988230del 498delC - FLAD1_000007 - PubMed: Olsen 2016 - - Germline - - - - - DNA SEQ - - MADD Fam6 PubMed: Olsen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
?/. - c.506G>A r.(?) p.(Arg169His) Unknown - VUS g.154960714G>A - FLAD1(NM_025207.5):c.506G>A (p.(Arg169His)) - FLAD1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.508T>C r.(?) p.(Phe170Leu) Maternal (confirmed) - VUS g.154960716T>C g.154988240T>C Phe170Leu - FLAD1_000008 - PubMed: Olsen 2016 - - Germline - - - - - DNA SEQ - - MADD Fam6 PubMed: Olsen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
+/. - c.526_537delinsCA r.(?) p.(Ala176Glnfs*8) Both (homozygous) - pathogenic (recessive) g.154960734_154960745delinsCA g.154988258_154988269delinsCA - - FLAD1_000010 - PubMed: Olsen 2016 - - Germline - - - - - DNA SEQ - - MADD Fam4 PubMed: Olsen 2016 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents F;M yes - - - - - - 3 Johan den Dunnen
+/. - c.568_569dup r.(?) p.(Val191Glnfs*10) Paternal (confirmed) - pathogenic (recessive) g.154960776_154960777dup g.154988300_154988301dup 568_569dupGC - FLAD1_000011 - PubMed: Olsen 2016 - - Germline - - - - - DNA SEQ - - MADD Fam2 PubMed: Olsen 2016, PubMed: Auranen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
-?/. - c.645A>G r.(?) p.(Glu215=) Unknown - likely benign g.154960853A>G - FLAD1(NM_025207.5):c.645A>G (p.E215=) - FLAD1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.729C>T r.(?) p.(Phe243=) Unknown - likely benign g.154960937C>T - FLAD1(NM_025207.5):c.729C>T (p.F243=) - FLAD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.745C>T r.(?) p.(Arg249Ter) Both (homozygous) ACMG pathogenic (recessive) g.154960953C>T g.154988477C>T - - FLAD1_000017 - PubMed: Lee 2021 - - Germline - - - - - DNA SEQ-NG - - MADD patient PubMed: Lee 2021 - F no Korea, South (Republic) - - - - riboflavin 1 Yun Jeong
+/. - c.745C>T r.(?) p.(Arg249*) Both (homozygous) - pathogenic (recessive) g.154960953C>T g.154988477C>T - - FLAD1_000017 - PubMed: B.Ryder 2018 - - Germline - - - - - DNA SEQ - - ? patient PubMed: Ryder 2018 - M - - - - - - - 1 Johan den Dunnen
+/. - c.745C>T r.(?) p.(Arg249Ter) Both (homozygous) ACMG pathogenic (recessive) g.154960953C>T g.154988477C>T - - FLAD1_000017 - - 801554 rs199979286 Germline yes - - - - DNA MLPA, PCR, PCRq, SEQ-NG-I blood NGS panel v3, 130 genes (93 nuclear, 37 mitochondrial), including FLAD1, Twist Human Core Exome + Human RefSeq and Mitochondrial Panels, Illumina NovaSeq 6000 LSMFLAD patient - - M no Portugal White - - - Yes, riboflavin 1 Filipe Godinho
+/. - c.745C>T r.(?) p.(Arg249Ter) Both (homozygous) - pathogenic (recessive) g.154960953C>T g.154988477C>T - - FLAD1_000017 - PubMed: Yamada 2019 - - Germline - - - - - DNA SEQ - - MADD patient PubMed: Yamada 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - - - - - 1 Johan den Dunnen
?/. - c.787C>T r.(?) p.(Arg263Trp) Unknown - VUS g.154960995C>T - FLAD1(NM_025207.5):c.787C>T (p.(Arg263Trp)) - FLAD1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.797_798delinsT r.(?) p.(Glu266ValfsTer3) Parent #1 - pathogenic (recessive) g.154961005_154961006delinsT g.154988529_154988530delinsT 797_798delAGinsT - FLAD1_000023 - PubMed: Garcia-Villoria 2018 - - Germline - - - - - DNA SEQ - - hypotonia patient PubMed: Garcia-Villoria 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Spain - - - - - 1 Johan den Dunnen
+/. - c.836del r.(?) p.(Phe279Serfs*45) Maternal (confirmed) - pathogenic (recessive) g.154961044del g.154988568del 836delT - FLAD1_000013 - PubMed: Olsen 2016 - - Germline - - - - - DNA SEQ - - MADD Fam3 PubMed: Olsen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
-?/. - c.1369A>G r.(?) p.(Asn457Asp) Unknown - likely benign g.154962819A>G - FLAD1(NM_025207.4):c.1369A>G (p.N457D) - FLAD1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1484_1486del r.(?) p.(Ser495del) Both (homozygous) - pathogenic (recessive) g.154962934_154962936del g.154990458_154990460del 1484_1486delCCT - FLAD1_000012 - PubMed: Olsen 2016 - - Germline - - - - - DNA SEQ - - MADD Fam1 PubMed: Olsen 2016 2-generation family, affectedsister/brother, unaffected heterozygous carrier parents F;M yes - - - - - - 2 Johan den Dunnen
+?/. 5i c.1555-3C>G r.spl? p.? Parent #2 - likely pathogenic (recessive) g.154965186C>G g.154992710C>G - - FLAD1_000024 - PubMed: Garcia-Villoria 2018 - - Germline - - - - - DNA SEQ - - hypotonia patient PubMed: Garcia-Villoria 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Spain - - - - - 1 Johan den Dunnen
+/. 6 c.1588C>T r.(?) p.(Arg530Cys) Paternal (confirmed) - pathogenic (recessive) g.154965222C>T g.154992746C>T - - FLAD1_000004 - PubMed: Muru 2019, Journal: Muru 2019 - - Germline - - - - - DNA SEQ-NG-I blood WES LSMFLAD patient PubMed: Muru 2019, Journal: Muru 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Estonia - >01y03m - - - 1 Sander Pajusalu
+/. - c.1588C>T r.(?) p.(Arg530Cys) Paternal (confirmed) - pathogenic (recessive) g.154965222C>T g.154992746C>T - - FLAD1_000004 - PubMed: Olsen 2016 - - Germline - - - - - DNA SEQ - - MADD Fam3 PubMed: Olsen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
+/. - c.1588C>T r.(?) p.(Arg530Cys) Maternal (confirmed) - pathogenic (recessive) g.154965222C>T g.154992746C>T - - FLAD1_000004 - PubMed: Olsen 2016 - - Germline - - - - - DNA SEQ - - MADD Fam2 PubMed: Olsen 2016, PubMed: Auranen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
+/. - c.1588C>T r.(?) p.(Arg530Cys) Parent #1 - pathogenic (recessive) g.154965222C>T g.154992746C>T - - FLAD1_000004 - PubMed: Wen 2022 - - Germline - - - - - DNA SEQ-NG - gene panel MADD patient PubMed: Wen 2022 analysis 110 patients with late-onset MADD - - China - - - - - 1 Johan den Dunnen
?/. - c.1589G>A r.(?) p.(Arg530His) Unknown - VUS g.154965223G>A - FLAD1(NM_025207.5):c.1589G>A (p.(Arg530His)) - FLAD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1589G>C r.(?) p.(Arg530Pro) Parent #2 - pathogenic (recessive) g.154965223G>C g.154992747G>C - - FLAD1_000025 - PubMed: Wen 2022 - - Germline - - - - - DNA SEQ-NG - gene panel MADD patient PubMed: Wen 2022 analysis 110 patients with late-onset MADD - - China - - - - - 1 Johan den Dunnen
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