Full data view for gene FKTN

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_001079802.1 transcript reference sequence.

83 entries on 1 page. Showing entries 1 - 83.
Legend   How to query  

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     
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Zanoteli 2002 - - Germline - - - - - DNA SEQ, Southern - - MDC ? PubMed: Zanoteli 2002 mother Japanese, father Japanese/Brazilian M - Japan;Brazil - - - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 insertion described as TCTCCC[41]; GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCC[49]; SINE; apolyadenylation signal and poly(A); target-site duplication (AAGAAAAAAAAAATTGT). PubMed: Kobayashi 2001 - - Germline - - - - - DNA Southern, SEQ - - MDC ? PubMed: Kobayashi 2001 3 affecteds - - Japan - - - - - 3 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Kobayashi 2001 - - Germline - - - - - DNA Southern, SEQ - - MDC ? PubMed: Kobayashi 2001 4 affecteds - - Japan - - - - - 4 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.spl? p.(?) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Matsumoto 2005 - - Germline - - - - - DNA SEQ - - MDC ? PubMed: Matsumoto 2005 5 affecteds - - Japan - - - - - 5 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Akiyama 2006 - - Germline - - - - - DNA PCR, SEQ - - MDC ? PubMed: Akiyama 2006 - M - Japan - >14y - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Matsumoto 2005 - - Germline - - - - - DNA SEQ - - MDC ? PubMed: Matsumoto 2005 3 affecteds - - Japan - - - - - 3 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.? Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0001 - - Germline - - - - - DNA, RNA SEQ, Northern - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 80 patients common ancestor, variant present in 125/144 87% FCMD alleles (D9S2105-D9S2170-D9S2171-D9S2107 as 138-192-147-183); RNA near undetectable - - Japan - - - - - 80 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.? Parent #2 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0001 - - Germline - - - - - DNA, RNA SEQ, Northern - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 80 patients common ancestor, variant present in 125/144 87% FCMD alleles (D9S2105-D9S2170-D9S2171-D9S2107 as 138-192-147-183); RNA near undetectable - - Japan - - - - - 80 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.(?) p.(?) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Kobayashi 2001 - - Germline - - - - - DNA Southern - - MDC ? PubMed: Kobayashi 2001 19 affecteds - - Japan - - - - - 19 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.(?) p.(?) Parent #2 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Kobayashi 2001 - - Germline - - - - - DNA Southern - - MDC ? PubMed: Kobayashi 2001 19 affecteds - - Japan - - - - - 19 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(?) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Matsumoto 2005 - - Germline - - - - - DNA PCR - - MDC ? PubMed: Matsumoto 2005 42 homozygous patients - - Japan - - - - - 42 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(?) Parent #2 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Matsumoto 2005 - - Germline - - - - - DNA PCR - - MDC ? PubMed: Matsumoto 2005 42 homozygous patients - - Japan - - - - - 42 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(0) Paternal (confirmed) - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0001 - - Germline - - - - - DNA SEQ, SSCA - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 - F - Japan - - - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(0) Paternal (confirmed) - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0001 - - Germline - - - - - DNA SEQ, SSCA - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 father US (UK/German ancestry) F - Japan;United States white; Asian - - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 haplotype D9S2105-D9S2170-D9S2171-D9S2107 as 138-192-147-183 PubMed: Kondo-Iida 1999 - - Germline - - - - - DNA SEQ, SSCA - - MDC ? PubMed: Kondo-Iida 1999 - F - Japan - - - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 haplotype D9S2105-D9S2170-D9S2171-D9S2107 as 138-192-147-183 PubMed: Kondo-Iida 1999 - - Germline - - - - - DNA SEQ, SSCA - - MDC ? PubMed: Kondo-Iida 1999 - M - Japan - - - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 haplotype D9S2105-D9S2170-D9S2171-D9S2107 as 138-192-147-183 PubMed: Kondo-Iida 1999 - - De novo - - - - - DNA SEQ, SSCA - - MDC ? PubMed: Kondo-Iida 1999 - F - Japan - - - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.0 Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 haplotype D9S2105-D9S2170-D9S2171-D9S2107 as 138-192-147-183 PubMed: Kondo-Iida 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, Southern - - MDC ? PubMed: Kondo-Iida 1999 2 affecteds - - Japan - - - - - 2 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Kobayashi 2001 - - Germline - - - - - DNA Southern, SEQ - - MDC ? PubMed: Kobayashi 2001 - F - Japan - - - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Kobayashi 2001 - - Germline - - - - - DNA Southern, SEQ - - MDC ? PubMed: Kobayashi 2001 - M - Japan - - - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Kobayashi 2001 - - Germline - - - - - DNA Southern, SEQ - - MDC ? PubMed: Kobayashi 2001 - M - Japan - - - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Matsumoto 2005 - - Germline - - - - - DNA SEQ - - MDC ? PubMed: Matsumoto 2005 - - - Japan - - - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Matsumoto 2005 - - Germline - - - - - DNA PCR - - MDC ? PubMed: Matsumoto 2005 - - - Japan - - - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0? p.(0?) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Matsumoto 2005 - - Germline - - - - - DNA PCR - - MDC ? PubMed: Matsumoto 2005 - - - Japan - - - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.spl? p.(?) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Matsumoto 2005 - - Germline - - - - - DNA SEQ - - MDC ? PubMed: Matsumoto 2005 - - - Japan - - - - - 1 Johan den Dunnen
-/? 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.? Parent #1 - benign g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Kobayashi 1998, PubMed: Watanabe 2005, OMIM:var0001 - - Germline - 15/5628 - - - DNA, RNA SEQ, Northern, PCR - - Healthy/Control ? PubMed: Kobayashi 1998, PubMed: Watanabe 2005 - - - Japan - - - - - 15 Johan den Dunnen
-/? 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.? Parent #1 - benign g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Kobayashi 1998, PubMed: Watanabe 2005, OMIM:var0001 - - Germline - 1/1870 - - - DNA, RNA SEQ, Northern, PCR - - Healthy/Control ? PubMed: Kobayashi 1998, PubMed: Watanabe 2005 - - - Korea, South (Republic) - - - - - 1 Johan den Dunnen
-/? 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.? Parent #1 - benign g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Kobayashi 1998, PubMed: Watanabe 2005, OMIM:var0001 - - Germline - 0/406 - - - DNA, RNA SEQ, Northern, PCR - - Healthy/Control ? PubMed: Kobayashi 1998, PubMed: Watanabe 2005 - - - Mongolia - - - - - 1 Johan den Dunnen
-/? 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.? Parent #1 - benign g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 found 0/1532 Chinese (402 North Korea, 394 North Hans, 736 Manchurians) PubMed: Kobayashi 1998, PubMed: Watanabe 2005, OMIM:var0001 - - Germline - 0/1532 - - - DNA, RNA SEQ, Northern, PCR - - Healthy/Control ? PubMed: Kobayashi 1998, PubMed: Watanabe 2005 - - - China - - - - - 1 Johan den Dunnen
-/? 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.? Parent #1 - benign g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Kobayashi 1998, PubMed: Watanabe 2005, OMIM:var0001 - - Germline - 1/176 - - - DNA, RNA SEQ, Northern, PCR - - Healthy/Control ? PubMed: Kobayashi 1998, PubMed: Watanabe 2005 - - - Japan - - - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(0) Unknown - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Arimura 2008 - - Germline - - - - - DNA SEQ - - CMD ? PubMed: Arimura 2008 - F - Japan - >19y - - - 1 Rosário dos Santos
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.spl? p.(?) Maternal (confirmed) - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Murakami 2006 - - Germline - - - - - DNA PCR, SEQ - - CMD 17036286.1 PubMed: Murakami 2006 brother of 17036286.2 M no Japan - >30y - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.spl? p.(?) Maternal (confirmed) - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Murakami 2006 - - Germline - - - - - DNA PCR, SEQ - - CMD 17036286.2 PubMed: Murakami 2006 sister of 17036286.1 F no Japan - >33y - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.spl? p.(?) Paternal (confirmed) - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Murakami 2006 - - Germline - - - - - DNA PCR, SEQ - - CMD 17036286.3 PubMed: Murakami 2006 sister of 17036286.4 F no Japan - >22y - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.spl? p.(?) Paternal (confirmed) - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Murakami 2006 - - Germline - - - - - DNA PCR, SEQ - - CMD 17036286.4 PubMed: Murakami 2006 brother of 17036286.3 M no Japan - 12y - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.spl? p.(?) Parent #2 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Murakami 2006 - - Germline - - - - - DNA PCR, SEQ - - CMD 17036286.5 PubMed: Murakami 2006 - F no Japan - >54y - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.spl? p.(?) Parent #2 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Murakami 2006 - - Germline - - - - - DNA PCR, SEQ - - CMD 17036286.6 PubMed: Murakami 2006 - F no Japan - >30y - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.(0) p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Lim 2010 - - Germline - - - - - DNA SEQ - - MDC 20620061-P1 PubMed: Lim 2010 - F - Korea - >2y - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.(0) p.(0) Parent #2 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Lim 2010 - - Germline - - - - - DNA SEQ - - MDC 20620061-P1 PubMed: Lim 2010 - F - Korea - >2y - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.(0) p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Lim 2010 - - Germline - - - - - DNA SEQ - - MDC 20620061-P2 PubMed: Lim 2010 - F - Korea - >8y - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.(0) p.(0) Parent #2 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Lim 2010 - - Germline - - - - - DNA SEQ - - MDC 20620061-P2 PubMed: Lim 2010 - F - Korea - >8y - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.(0) p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Lim 2010 - - Germline - - - - - DNA SEQ - - MDC 20620061-P3 PubMed: Lim 2010 - M - Korea - >2y - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.(0) p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Lim 2010 - - Germline - - - - - DNA SEQ - - MDC 20620061-P4 PubMed: Lim 2010 - F - Korea - >2y - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.(0) p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Lim 2010 - - Germline - - - - - DNA SEQ - - MDC 20620061-P5 PubMed: Lim 2010 - F - Korea - >7y - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.(0) p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Lim 2010 - - Germline - - - - - DNA SEQ - - MDC 20620061-P6 PubMed: Lim 2010 - M - Korea - >3y - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.(0) p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Lim 2010 - - Germline - - - - - DNA SEQ - - MDC 20620061-P7 PubMed: Lim 2010 - M - Korea - >2y - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.(0) p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Lim 2010 - - Germline - - - - - DNA SEQ - - MDC 20620061-P8 PubMed: Lim 2010 - M - Korea - >8y - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.(0) p.(0) Parent #1 - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Lim 2010 - - Germline - - - - - DNA SEQ - - MDC 20620061-P9 PubMed: Lim 2010 - F - Korea - >2y - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.(0) p.(0) Both (homozygous) - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: L33 2009, PubMed: Lim 2010 - - Germline - - - - - DNA SEQ - - MDC 20620061-P13 PubMed: L33 2009, PubMed: Lim 2010 - M - Korea - >10y - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(0) Maternal (confirmed) - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0001 - - Germline - - - - - DNA SEQ, SSCA - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 - M - Japan - - - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(0) Maternal (confirmed) - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0001 - - Germline - - - - - DNA SEQ, SSCA - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 - M - Japan - - - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(0) Paternal (confirmed) - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0001 - - Germline - - - - - DNA SEQ, SSCA - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 - F - Japan - - - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(0) Maternal (confirmed) - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0001 - - Germline - - - - - DNA SEQ, SSCA - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 - F - Japan - - - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0 p.(0) Maternal (confirmed) - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999, OMIM:var0001 - - Germline - - - - - DNA SEQ, SSCA - - MDC ? PubMed: Kobayashi 1998, PubMed: Kondo-Iida 1999 - F - Japan - - - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.0? p.0? Paternal (confirmed) - pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] RT insertion - FKTN_000001 - PubMed: Lim 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG - - MDC 23453855-Pat4 PubMed: Lim 2013 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F - Korea - - - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Paternal (confirmed) ACMG pathogenic (recessive) g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline yes - - - - DNA SEQ-NG - - MDDGA Case 18 - - F no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. - c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Parent #2 - pathogenic (recessive) g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] c.4375_4376ins AB185332.1 - FKTN_000001 - PubMed: Song 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDG Pat123 PubMed: Song 2021 - M - China - - - - - 1 Johan den Dunnen
+/. - c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Parent #2 - pathogenic (recessive) g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] c.4375_4376ins AB185332.1 - FKTN_000001 - PubMed: Song 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDG Pat124 PubMed: Song 2021 - F - China - - - - - 1 Johan den Dunnen
+/. - c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Parent #2 - pathogenic (recessive) g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] c.4375_4376ins AB185332.1 - FKTN_000001 - PubMed: Song 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - - MDDG Pat125 PubMed: Song 2021 - F - China - - - - - 1 Johan den Dunnen
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Unknown ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 1 - - M no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Paternal (confirmed) ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 14 - - F - (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Maternal (confirmed) ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 14 - - F - (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Paternal (confirmed) ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 2 - - F no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Unknown ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 3a - family, 2 affected M no (Korea, South (Republic)) Korea - - - - 2 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Unknown ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 3b - - M no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Unknown ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 4 - - F no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Unknown ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 5 - - M no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Unknown ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 6 - - F no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Unknown ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 7 - - M no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Unknown ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 8 - - F no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Unknown ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 9 - - M no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Unknown ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 10 - - M no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Unknown ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 11 - - F no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Unknown ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 12 - - M no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Unknown ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 13 - - M no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Both (homozygous) ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 15 - - M no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Both (homozygous) ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 16 - - F no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Both (homozygous) ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 17a - family, 2 affected F no (Korea, South (Republic)) Korea - - - - 2 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Both (homozygous) ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 17b - - M no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Unknown ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline ? - - - - DNA PCR - - MDDGA Case 19 - - F no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Unknown ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 20 - - M no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Unknown ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 34a - family, 2 affected M no (Korea, South (Republic)) Korea - - - - 2 Young Jun Ko
+/. 11 c.*4375_*4376ins[AB185332.1:g.1_3062] r.? p.? Unknown ACMG pathogenic g.108401920_108401921ins[AB185332.1:g.1_3062] g.105639639_105639640ins[AB185332.1:g.1_3062] - - FKTN_000001 - - - - Germline - - - - - DNA PCR - - MDDGA Case 34b - - F no (Korea, South (Republic)) Korea - - - - 1 Young Jun Ko
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.