All transcript variants in gene FANCA

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_000135.2 transcript reference sequence.

1856 entries on 19 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Haplotype     

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     
+/+ _1_43_ c.-4617_*580del - r.? p.? FA g.89804429_89887640del g.89738021_89821232del g.88331930_88415141del83212 - FANCA_000693 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_3i c.-4157_284-1315del - r.? p.? FA g.89878794_89887180del g.89812386_89820772del g.88406326_88414712del8387 - FANCA_000653 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_37i c.-3552_3765+261del - r.? p.? FA g.89808947_89886575del g.89742539_89820167del g.88336484_88414112del77629 - FANCA_000695 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/. 1 c.-42-?_792+?del - r.(?) p.0? FA g.89883065_89869667del g.89803259_89816657del - - FANCA_000033 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - 0 - Johan de Winter
+/. 1 c.-42-?_1083+?del - r.(?) p.(fs*) FA g.89883065_89858879del g.89792471_89816657del - - FANCA_000620 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - 0 - Johan de Winter
?/. 1 c.-42-?_2014+?del - r.(?) p.? FA g.89883065_89839679del g.89773271_89816657del - - FANCA_000621 - Pallavi Shukla, NIIH - - Unknown ? - - 0 - Arleen D. Auerbach
?/. 1 c.-42-?_2014+?del - r.(?) p.? FA g.89883065_89839679del g.89773271_89816657del - - FANCA_000621 - Pallavi Shukla, NIIH - - Unknown ? - - 0 - Arleen D. Auerbach
+/. _1_1i c.(?_-1)_79+?del - r.0? p.0? FA g.89883065_89882945del - - - FANCA_000010 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_2i c.(?_-42)_(189+1_190-1)del - r.(?) p.? FA g.(89881022_89882284)_89883065del - g.88409549_88411749del2201 - FANCA_000654 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
?/. _1_3i c.(?_-1)_283+?del - r.0? p.0? FA g.89883065_89880928del - - - FANCA_000026 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_3i c.(?_-1)_283+?del - r.0? p.0? FA g.89883065_89880928del - - - FANCA_000026 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_5i c.(?_-1)_522+?del - r.0? p.0? FA g.89883065_89877115del - - - FANCA_000007 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_5i c.(?_-1)_522+?del - r.0? p.0? FA g.89883065_89877115del - - - FANCA_000007 - PubMed: Morgan 1999 - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_5i c.(?_-1)_522+?del - r.0? p.0? FA g.89883065_89877115del - - - FANCA_000007 - PubMed: Morgan 1999 - - Germline ? - - 0 - Sue Richards
?/. _1_5i c.(?_-1)_522+?del - r.0? p.0? FA g.89883065_89877115del - - - FANCA_000007 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_5i c.(?_-1)_522+?del - r.0? p.0? FA g.89883065_89877115del - - - FANCA_000007 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_5i c.(?_-1)_522+?del - r.0? p.0? FA g.89883065_89877115del - - - FANCA_000007 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_5i c.(?_-42)_523-828del - r.? p.? FA g.89875603_89883065del - g.88403104_88418467del15364 - FANCA_000651 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_5i c.(?_-42)_523-818del - r.? p.? FA g.89875593_89883065del - g.88403094_88418774del15681 - FANCA_000650 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_5i c.(?_-42)_523-818del - r.? p.? FA g.89875593_89883065del - g.88403094_88418774del15681 - FANCA_000650 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_5i c.(?_-42)_523-663del - r.? p.? FA g.89875438_89883065del - g.88402939_88435730del32792 - FANCA_000718 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_5i c.(?_-42)_(522+1_523-1)del - r.(?) p.? FA g.(89874776_89877114)_89883065del - g.88403999_88437249del33251 - FANCA_000717 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/. _1_6i c.(?_-1)_596+?del - r.0? p.0? FA g.89883065_89874702del - - - FANCA_000009 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_6i c.(?_-1)_596+?del - r.0? p.0? FA g.89883065_89874702del - - - FANCA_000009 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_6i c.(?_-1)_596+?del - r.0? p.0? FA g.89883065_89874702del - - - FANCA_000009 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_6i c.(?_-1)_596+?del - r.0? p.0? FA g.89883065_89874702del - - - FANCA_000009 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_6i c.(?_-1)_596+?del - r.0? p.0? FA g.89883065_89874702del - - - FANCA_000009 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_6i c.(?_-1)_596+?del - r.0? p.0? FA g.89883065_89874702del - - - FANCA_000009 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_6i c.(?_-1)_596+?del - r.0? p.0? FA g.89883065_89874702del - - - FANCA_000009 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_6i c.(?_-1)_596+?del - r.0? p.0? FA g.89883065_89874702del - - - FANCA_000009 - - - - Germline ? - - 0 - Sue Richards
+/. _1_6i c.(?_-1)_596+?del - r.0? p.0? FA g.89883065_89874702del - - - FANCA_000009 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_6i c.(?_-42)_596+540del - r.? p.? FA g.89874162_89883065del - g.88401663_88433153del31491 - FANCA_000714 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_6i c.(?_-42)_596+540del - r.? p.? FA g.89874162_89883065del - g.88401663_88433153del31491 - FANCA_000714 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_6i c.(?_-42)_596+540del - r.? p.? FA g.89874162_89883065del - g.88401663_88433153del31491 - FANCA_000714 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_6i c.(?_-42)_596+540del - r.? p.? FA g.89874162_89883065del - g.88401663_88433153del31491 - FANCA_000714 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_6i c.(?_-42)_596+540del - r.? p.? FA g.89874162_89883065del - g.88401663_88433153del31491 - FANCA_000714 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_6i c.(?_-42)_597-800del - r.? p.? FA g.89872600_89883065del - g.88400101_88419559del19459 - FANCA_000713 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_7i c.(?_-42)_(597-1_709+1)del - r.(?) p.? FA g.(89871687_89871801)_89883065del - g.88399249_88412249del13001 - FANCA_000710 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_7i c.(?_-42)_(597-1_709+1)del - r.(?) p.? FA g.(89871687_89871801)_89883065del - g.88399249_88412249del13001 - FANCA_000710 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
?/. _1_7i c.(?_-1)_709+?del - r.0? p.0? FA g.89883065_89871688del - - - FANCA_000031 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_7i c.(?_-42)_(709+1_710-1)del - r.(?) p.? FA g.(89869750_89871687)_89883065del - g.88398749_88425749del27001 - FANCA_000709 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_7i c.(?_-42)_(709+1_710-1)del - r.(?) p.? FA g.(89869750_89871687)_89883065del - g.88398749_88420249del21501 - FANCA_000709 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
?/. _1_8i c.(?_-1)_792+?del - r.0? p.0? FA g.89883065_89869667del g.89803259_89816657del - - FANCA_000033 - - - - Germline ? - - 0 - Arleen D. Auerbach
?/. _1_8i c.(?_-1)_792+?del - r.0? p.0? FA g.89883065_89869667del g.89803259_89816657del - - FANCA_000033 - - - - Germline ? - - 0 - Arleen D. Auerbach
?/. _1_8i c.(?_-1)_792+?del - r.0? p.0? FA g.89883065_89869667del g.89803259_89816657del - - FANCA_000033 - - - - Germline ? - - 0 - Arleen D. Auerbach
?/. _1_11i c.(?_-1)_1006+?del - r.0? p.0? FA g.89883065_89862314del - - - FANCA_000001 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_11i c.(?_-1)_1006+?del - r.0? p.0? FA g.89883065_89862314del - - - FANCA_000001 - - - - Germline ? - - 0 - Sue Richards
?/. _1_11i c.(?_-1)_1006+?del - r.0? p.0? FA g.89883065_89862314del - - - FANCA_000001 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_11i c.(?_-42)_(1006+1_1007-1)del - r.(?) p.? FA g.(89858956_89862313)_89883065del - g.88387000_88412000del25001 - FANCA_000682 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_11i c.(?_-42)_(1006+1_1007-1)del - r.(?) p.? FA g.(89858956_89862313)_89883065del - g.88387749_88432749del45001 - FANCA_000682 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
?/. _1_14i c.(?_-1)_1359+?del - r.0? p.0? FA g.89883065_89857811del - - - FANCA_000025 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_14i c.(?_-42)_(1359+1_1360-1)del - r.(?) p.? FA g.(89851373_89857810)_89883065del - g.88383499_88474299del90801 - FANCA_000678 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_14i c.(?_-42)_(1359+1_1360-1)del - r.(?) p.? FA g.(89851373_89857810)_89883065del - g.88383499_88437499del54001 - FANCA_000678 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/. _1_20i c.(?_-1)_1826+?del - r.0? p.0? FA g.89883065_89845209del - - - FANCA_000564 - PubMed: Castella 2011 - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_20i c.(?_-1)_1826+?del - r.0? p.0? FA g.89883065_89845209del - - - FANCA_000564 - Castella 2011 - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_21i c.(?_-1)_1900+?del - r.0? p.0? FA g.89883065_89842150del - - - FANCA_000005 Wijker et al, 1999 reports this allele as c.827-?_1225+?del PubMed: Morgan 1999 - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_29i c.(?_-1)_2852+?del - r.0? p.0? FA g.89883065_89828357del - - - FANCA_000468 - OHSU - - Germline ? - - 0 - Arleen D. Auerbach
?/. _1_29i c.(?_-1)_2852+?del - r.0? p.0? FA g.89883065_89828357del - - - FANCA_000468 - OHSU - - Germline ? - - 0 - Sue Richards
+/. _1_30i c.(?_-1)_2981+?del - r.0? p.0? FA g.89883065_89824985del - - - FANCA_000011 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_30i c.(?_-1)_2981+?del - r.0? p.0? FA g.89883065_89824985del - - - FANCA_000011 - PubMed: Wijker 1999 - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_30i c.(?_-1)_2981+?del - r.0? p.0? FA g.89883065_89824985del - - - FANCA_000011 - PubMed: Ameziane 2007 - - Germline ? - - 0 - Johan de Winter
+/. _1_30i c.(?_-1)_2981+?del - r.0? p.0? FA g.89883065_89824985del - - - FANCA_000011 - PubMed: Wijker 1999 - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_30i c.(?_-42)_2982-1786del - r.? p.? FA g.89820416_89883065del - g.88347917_88433278del85362 - FANCA_000704 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/. _1_31i c.(?_-1)_3066+?del - r.0? p.0? FA g.89883065_89818546del - - - FANCA_000003 - PubMed: Morgan 1999 - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_31i c.(?_-1)_3066+?del - r.0? p.0? FA g.89883065_89818546del - - - FANCA_000003 - PubMed: Morgan 1999 - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_31i c.(?_-1)_3066+?del - r.0? p.0? FA g.89883065_89818546del - - - FANCA_000003 See FANCA_00006 (Wijker et al, 1999) PubMed: Ameziane 2007 - - Germline ? - - 0 - Johan de Winter
+/. _1_31i c.(?_-1)_3066+?del - r.0? p.0? FA g.89883065_89818546del - - - FANCA_000003 - PubMed: Adachi 2002 - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_31i c.(?_-42)_3066+281del - r.? p.? FA g.89818265_89883065del - g.88345766_88460603del114838 - FANCA_000703 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_31i c.(?_-42)_3066+281del - r.? p.? FA g.89818265_89883065del - g.88345766_88460603del114838 - FANCA_000703 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
?/. _1_36i c.(?_-1)_3626+?del - r.0? p.0? FA g.89883065_89811367del - - - FANCA_000028 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_36i c.(?_-42)_(3626+1_3627-1)del - r.(?) p.? FA g.(89809347_89811366)_89883065del - g.88338249_88470249del132001 - FANCA_000696 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_37i c.(?_-1)_3765+?del - r.0? p.0? FA g.89883065_89809208del - - - FANCA_000545 - OHSU - - Germline ? - - 0 - Arleen D. Auerbach
?/. _1_38i c.(?_-1)_3828+?del - r.0? p.0? FA g.89883065_89807212del - - - FANCA_000029 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/+ _1_43_ c.(?_-1)_4368+?del - r.0? p.0? FA g.89883065_89805009del - - - FANCA_000008 - PubMed: Chandra 2005 - - Germline ? - - 0 - Sue Richards
+/+ _1_43_ c.(?_-42)_(*1050_?)del - r.? p.? FA g.89803959_89883065del - g.88322270_88505839del183570 - FANCA_000692 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_43_ c.(?_-42)_(*1050_?)del - r.? p.? FA g.89803959_89883065del - g.88322270_88505839del183570 - FANCA_000692 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_43_ c.(?_-42)_(*1050_?)del - r.(?) p.? FA g.89803959_89883065del - g.88131700_88610500del478801 - FANCA_000692 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_43_ c.(?_-42)_(*1050_?)del - r.(?) p.? FA g.89803959_89883065del - g.88227499_88446249del218751 - FANCA_000692 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_43_ c.(?_-42)_(*1050_?)del - r.? p.? FA g.89803959_89883065del - g.88302909_88483387del180479 - FANCA_000692 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_43_ c.(?_-42)_(*1050_?)del - r.? p.? FA g.89803959_89883065del - g.88250100_88425360del175261 - FANCA_000692 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_43_ c.(?_-42)_(*1050_?)del - r.(?) p.? FA g.89803959_89883065del - g.88281756_88827254del545499 - FANCA_000692 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/+ _1_43_ c.(?_-42)_(*1050_?)del - r.(?) p.? FA g.89803959_89883065del - g.88330849_88500000del169152 - FANCA_000692 - PubMed: Flynn EK 2014 - - Unknown - - - 0 - Arleen D. Auerbach
+/. _1_43_ c.(?_-1)_4368+?del - r.0? p.0? FA g.89883065_89803896del - - - FANCA_000008 - PubMed: Centra 1998 - - Germline ? - - 0 - Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA g.89883065_89805009del - - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA g.89883065_89805009del - - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA g.89883065_89805009del - - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA g.89805008_89883024del - - - FANCA_000000 range of deletion undefined - - - Germline ? - - 0 - Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA g.89805008_89883024del - - - FANCA_000000 range of deletion undefined - - - Germline ? - - 0 - Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA g.89883065_89805009del - - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA g.89883065_89805009del - - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA g.89883065_89805009del - - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA g.89883065_89805009del - - - FANCA_000008 - PubMed: Chandra 2005 - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA g.89883065_89805009del - - - FANCA_000034 - PubMed: Savino 2003 - - Germline ? - - 0 - Arleen D. Auerbach
+/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA g.89883065_89805009del - - - FANCA_000008 - PubMed: Ameziane 2007 - - Germline ? - - 0 - Johan de Winter
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA g.89805008_89883024del - - - FANCA_000000 - - - - Germline ? - - 0 - Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA g.89883065_89805009del - - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA g.89805008_89883024del - - - FANCA_000000 - - - - Germline ? - - 0 - Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA g.89883065_89805009del - - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA g.89883065_89805009del - - - FANCA_000008 - - - - Germline ? - - 0 - Arleen D. Auerbach
?/. _1_43_ c.(?_-1)_(*1_?)del - r.0? p.0? FA g.89805008_89883024del - - - FANCA_000000 - - - - Germline ? - - 0 - Arleen D. Auerbach
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