Full data view for gene ISCU

Information The variants shown are described using the NM_014301.3 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.-1747C>T r.(?) p.(=) Unknown - benign g.108954823C>T g.108561047C>T SART3(NM_014706.4):c.108G>A (p.R36=) - SART3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-1708G>C r.(?) p.(=) Unknown - benign g.108954862G>C g.108561086G>C SART3(NM_014706.4):c.69C>G (p.D23E) - SART3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-153T>G r.(?) p.(=) Unknown - benign g.108956417T>G g.108562641T>G ISCU(NM_213595.4):c.19T>G (p.F7V) - ISCU_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-152T>G r.(?) p.(=) Unknown - benign g.108956418T>G g.108562642T>G ISCU(NM_213595.4):c.20T>G (p.F7C) - SART3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-58+17dup r.(=) p.(=) Unknown - benign g.108956529dup g.108562753dup ISCU(NM_014301.4):c.-58+17_-58+18insG - ISCU_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 3 c.74G>A r.(?) p.(Gly25Glu) Parent #1 - pathogenic g.108958089G>A g.108564313G>A 149G>A (Gly50Glu) - ISCU_000002 - {PMID9:Kollberg 2009:1956769}, OMIM:var0002 - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.139G>A r.(?) p.(Val47Ile) Unknown - VUS g.108958154G>A g.108564378G>A - - SART3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.212G>T r.(?) p.(Gly71Val) Unknown - pathogenic g.108959155G>T g.108565379G>T NM_213595.2:c.287G>T - ISCU_000003 - - - - De novo - - - 0 - DNA SEQ-NG - WES HML mt4460 - - M no Italy - - 0 - - 1 Daniele Ghezzi
-?/. - c.234A>G r.(?) p.(Ser78=) Unknown - likely benign g.108959177A>G g.108565401A>G ISCU(NM_001320042.1):c.309A>G (p.S103=) - SART3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16 Both (homozygous) - pathogenic g.108961426G>C g.108567650G>C g.7044G>C - ISCU_000001 variant strengthens splice site, changing alternative splicing balance, 20-40% reduced mRNA levels PubMed: Mochel 2008, OMIM:var0001 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - HML 18304497-P1 PubMed: Hall 1993 - - - Sweden - >37y 0 - - 1 Johan den Dunnen
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16 Both (homozygous) - pathogenic g.108961426G>C g.108567650G>C g.7044G>C - ISCU_000001 variant strengthens splice site, changing alternative splicing balance, 20-40% reduced mRNA levels PubMed: Mochel 2008, OMIM:var0001 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - HML 18304497-P2 PubMed: Mochel 2008 - - - Sweden - >39y 0 - - 1 Johan den Dunnen
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16 Both (homozygous) - pathogenic g.108961426G>C g.108567650G>C g.7044G>C - ISCU_000001 variant strengthens splice site, changing alternative splicing balance, 20-40% reduced mRNA levels PubMed: Mochel 2008, OMIM:var0001 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - HML 18304497-FamA.P3 PubMed: Drugge 1995 3-generation family, 4 affecteds - - Sweden - >66y 0 - - 4 Johan den Dunnen
+/? 5i c.343+382G>C r.(?) p.(Met115Lysfs*16) Unknown - pathogenic g.108961426G>C g.108567650G>C g.7044G>C - ISCU_000001 not in 584 non-Swedish controls PubMed: Mochel 2008, OMIM:var0001 - - Germline - 3/568 controls - 0 - DNA SEQ - - HML 18304497-c PubMed: Mochel 2008 - - - - - - 0 - - 3 Johan den Dunnen
+/? 5i c.343+382G>C r.spl p.fs* Parent #1 - pathogenic g.108961426G>C g.108567650G>C - - ISCU_000001 control chromosomes PubMed: Olsson 2008, OMIM:var0001 - - Germline - 1/354 controls - 0 - DNA SEQ - - HML 18296749-c PubMed: Mochel 2008 - - - Sweden - - 0 - - 1 Johan den Dunnen
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16 Both (homozygous) - pathogenic g.108961426G>C g.108567650G>C IVS5+382G>C - ISCU_000001 linkage, LOD score 5.3, common haplotype PubMed: Olsson 2008, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - HML 18296749-FamA PubMed: Olsson 2009 family, 4 affecteds (3F, 1M) - - Sweden - - 0 - - 4 Johan den Dunnen
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16 Both (homozygous) - pathogenic g.108961426G>C g.108567650G>C IVS5+382G>C - ISCU_000001 linkage, LOD score 5.3, common haplotype PubMed: Olsson 2008, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - HML 18296749-FamB PubMed: Olsson 2009 family, 2 affecteds (F, M) - - Sweden - - 0 - - 2 Johan den Dunnen
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16 Both (homozygous) - pathogenic g.108961426G>C g.108567650G>C IVS5+382G>C - ISCU_000001 linkage, LOD score 5.3, common haplotype PubMed: Olsson 2008, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - HML 18296749-FamC PubMed: Olsson 2009 family, 3 affecteds (2F, 1M) - - Sweden - - 0 - - 3 Johan den Dunnen
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16 Both (homozygous) - pathogenic g.108961426G>C g.108567650G>C IVS5+382G>C - ISCU_000001 linkage, LOD score 5.3, common haplotype PubMed: Olsson 2008, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - HML 18296749-FamD PubMed: Olsson 2009 family, 3 affecteds (3M) M - Sweden - - 0 - - 3 Johan den Dunnen
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16 Both (homozygous) - pathogenic g.108961426G>C g.108567650G>C IVS5+382G>C - ISCU_000001 linkage, LOD score 5.3, common haplotype PubMed: Olsson 2008, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - HML 18296749-FamE PubMed: Olsson 2009 family, 1 affected female F - Sweden - - 0 - - 1 Johan den Dunnen
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16 Both (homozygous) - pathogenic g.108961426G>C g.108567650G>C IVS5+382G>C - ISCU_000001 linkage, LOD score 5.3, common haplotype PubMed: Olsson 2008, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - HML 18296749-FamF PubMed: Olsson 2009 family, 1 affected male M - Sweden - - 0 - - 1 Johan den Dunnen
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16 Both (homozygous) - pathogenic g.108961426G>C g.108567650G>C IVS5+382G>C - ISCU_000001 linkage, LOD score 5.3, common haplotype PubMed: Olsson 2008, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - HML 18296749-FamG PubMed: Olsson 2009 family, 2 affecteds (F, M) - - Sweden - - 0 - - 2 Johan den Dunnen
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16 Both (homozygous) - pathogenic g.108961426G>C g.108567650G>C IVS5+382G>C - ISCU_000001 linkage, LOD score 5.3, common haplotype PubMed: Olsson 2008, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - HML 18296749-FamH PubMed: Olsson 2009 family, 1 affected male M - Sweden - - 0 - - 1 Johan den Dunnen
+/? 5i c.343+382G>C r.343_344ins343+390_343+489 p.Met115Lysfs*16 Both (homozygous) - pathogenic g.108961426G>C g.108567650G>C IVS5+382G>C - ISCU_000001 linkage, LOD score 5.3, common haplotype PubMed: Olsson 2008, OMIM:var0001 - - Germline - - - 0 - DNA SEQ - - HML 18296749-FamI PubMed: Olsson 2009 family, 1 affected male M - Sweden - - 0 - - 1 Johan den Dunnen
+/? 5i c.343+382G>C r.[343_344ins343+390_343+489,343_344ins343+390_343+475] p.Met115Lysfs*16 Parent #2 - pathogenic g.108961426G>C g.108567650G>C - - ISCU_000001 - PubMed: Kollberg 2009 - - Germline - - - 0 - DNA SEQ - - HML 19567699-FamG PubMed: Kollberg 2009 family, 2 affected males M - Sweden - - 0 - - 2 Johan den Dunnen
+/? 5i c.343+382G>C r.[343_344ins343+390_343+489,343_344ins343+390_343+475] p.Met115Lysfs*16 Both (homozygous) - pathogenic g.108961426G>C g.108567650G>C - - ISCU_000001 - PubMed: Kollberg 2009 - - Germline - - - 0 - DNA SEQ - - HML 19567699-FamA PubMed: Kollberg 2009 family, 1 affected male M - Sweden - - 0 - - 1 Johan den Dunnen
+/? 5i c.343+382G>C r.[343_344ins343+390_343+489,343_344ins343+390_343+475] p.Met115Lysfs*16 Both (homozygous) - pathogenic g.108961426G>C g.108567650G>C - - ISCU_000001 - PubMed: Kollberg 2009 - - Germline - - - 0 - DNA SEQ - - HML 19567699-FamB PubMed: Kollberg 2009 family, 1 affected male M - Sweden - - 0 - - 1 Johan den Dunnen
+/? 5i c.343+382G>C r.[343_344ins343+390_343+489,343_344ins343+390_343+475] p.Met115Lysfs*16 Both (homozygous) - pathogenic g.108961426G>C g.108567650G>C - - ISCU_000001 - PubMed: Kollberg 2009 - - Germline - - - 0 - DNA SEQ - - HML 19567699-FamC PubMed: Kollberg 2009 family, 1 affected female F - Sweden - - 0 - - 1 Johan den Dunnen
+/? 5i c.343+382G>C r.[343_344ins343+390_343+489,343_344ins343+390_343+475] p.Met115Lysfs*16 Both (homozygous) - pathogenic g.108961426G>C g.108567650G>C - - ISCU_000001 - PubMed: Kollberg 2009 - - Germline - - - 0 - DNA SEQ - - HML 19567699-FamD PubMed: Kollberg 2009 family, 1 affected male M - Sweden - - 0 - - 1 Johan den Dunnen
+/? 5i c.343+382G>C r.[343_344ins343+390_343+489,343_344ins343+390_343+475] p.Met115Lysfs*16 Both (homozygous) - pathogenic g.108961426G>C g.108567650G>C - - ISCU_000001 - PubMed: Kollberg 2009 - - Germline - - - 0 - DNA SEQ - - HML 19567699-FamE PubMed: Kollberg 2009 family, 2 affected males M - Sweden - - 0 - - 2 Johan den Dunnen
+/? 5i c.343+382G>C r.[343_344ins343+390_343+489,343_344ins343+390_343+475] p.Met115Lysfs*16 Both (homozygous) - pathogenic g.108961426G>C g.108567650G>C - - ISCU_000001 - PubMed: Kollberg 2009 - - Germline - - - 0 - DNA SEQ - - HML 19567699-FamF PubMed: Kollberg 2009 family, 2 affected females F - Sweden - - 0 - - 2 Johan den Dunnen
-?/. - c.373C>T r.(?) p.(Leu125=) Unknown - likely benign g.108962636C>T - ISCU(NM_014301.4):c.373C>T (p.L125=) - ISCU_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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