All variants in the FLAD1 gene

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

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.-292_-291del r.(?) p.(=) - 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 - - - 0 - VKGL-NL_Leiden
+/. - c.324del r.(?) p.(Arg109Alafs*3) - pathogenic (recessive) g.154956494del g.154984018del 324delG - FLAD1_000006 - PubMed: Olsen 2016 - - Germline - - - 0 - Johan den Dunnen
?/. - c.363G>T r.(?) p.(Glu121Asp) - 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 - - - 0 - VKGL-NL_Leiden
+/. - c.401_404del r.(?) p.(Phe134Cysfs*8) - pathogenic (recessive) g.154960609_154960612del g.154988133_154988136del 401_404delTTCT - FLAD1_000009 - PubMed: Olsen 2016 - - Germline - - - 0 - Johan den Dunnen
+/. - c.401_404del r.(?) p.(Phe134Cysfs*8) - pathogenic (recessive) g.154960609_154960612del g.154988133_154988136del 401_404delTTCT - FLAD1_000009 - PubMed: Olsen 2016 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.401_404del r.(?) p.(Phe134Cysfs*8) - likely pathogenic g.154960609_154960612del g.154988133_154988136del 397_400delTTCT - FLAD1_000005 - PubMed: Taylor 2014 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.401_404del r.(?) p.(Phe134Cysfs*8) - likely pathogenic (recessive) g.154960609_154960612del g.154988133_154988136del c.397_400 delTTCT - FLAD1_000009 - PubMed: Taylor 2014 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.442C>T r.(?) p.(Arg148*) - pathogenic (recessive) g.154960650C>T g.154988174C>T - - FLAD1_000003 - PubMed: Puusepp 2019, Journal: Puusepp 2019 - - Germline - - - 0 - Sander Pajusalu
+/. - c.498del r.(?) p.(Ser167Profs*20) - pathogenic (recessive) g.154960706del g.154988230del 498delC - FLAD1_000007 - PubMed: Olsen 2016 - - Germline - - - 0 - Johan den Dunnen
?/. - c.508T>C r.(?) p.(Phe170Leu) - VUS g.154960716T>C g.154988240T>C Phe170Leu - FLAD1_000008 - PubMed: Olsen 2016 - - Germline - - - 0 - Johan den Dunnen
+/. - c.526_537delinsCA r.(?) p.(Ala176Glnfs*8) - pathogenic (recessive) g.154960734_154960745delinsCA g.154988258_154988269delinsCA - - FLAD1_000010 - PubMed: Olsen 2016 - - Germline - - - 0 - Johan den Dunnen
+/. - c.568_569dup r.(?) p.(Val191Glnfs*10) - pathogenic (recessive) g.154960776_154960777dup g.154988300_154988301dup 568_569dupGC - FLAD1_000011 - PubMed: Olsen 2016 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.729C>T r.(?) p.(Phe243=) - likely benign g.154960937C>T - FLAD1(NM_025207.5):c.729C>T (p.F243=) - FLAD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 c.745C>T r.(?) p.(Arg249*) ACMG pathogenic (recessive) g.154960953C>T g.154988477C>T - - FLAD1_000017 - - - - Germline - - - 0 - Yun Jeong
+/. - c.745C>T r.(?) p.(Arg249*) - pathogenic (recessive) g.154960953C>T g.154988477C>T - - FLAD1_000017 - PubMed: B.Ryder 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.836del r.(?) p.(Phe279Serfs*45) - pathogenic (recessive) g.154961044del g.154988568del 836delT - FLAD1_000013 - PubMed: Olsen 2016 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1369A>G r.(?) p.(Asn457Asp) - likely benign g.154962819A>G - FLAD1(NM_025207.4):c.1369A>G (p.N457D) - FLAD1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1484_1486del r.(?) p.(Ser495del) - pathogenic (recessive) g.154962934_154962936del g.154990458_154990460del 1484_1486delCCT - FLAD1_000012 - PubMed: Olsen 2016 - - Germline - - - 0 - Johan den Dunnen
+/. 6 c.1588C>T r.(?) p.(Arg530Cys) - pathogenic (recessive) g.154965222C>T g.154992746C>T - - FLAD1_000004 - PubMed: Puusepp 2019, Journal: Puusepp 2019 - - Germline - - - 0 - Sander Pajusalu
+/. - c.1588C>T r.(?) p.(Arg530Cys) - pathogenic (recessive) g.154965222C>T g.154992746C>T - - FLAD1_000004 - PubMed: Olsen 2016 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1588C>T r.(?) p.(Arg530Cys) - pathogenic (recessive) g.154965222C>T g.154992746C>T - - FLAD1_000004 - PubMed: Olsen 2016 - - Germline - - - 0 - Johan den Dunnen
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