Full data view for gene STS

Information The variants shown are described using the NM_001320752.2 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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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     
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 Unknown - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Yen 1987 - - Unknown - - - - - DNA Southern blood - XLI - PubMed: Yen 1987 8/10 patients complete gene deletion M - - - - - - - 1 Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 Unknown - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Bonifas 1987 - - Unknown - - - - - DNA Southern blood - XLI - PubMed: Bonifas 1987 14/15 complete gene deletion M - - - - - - - 1 Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 Unknown - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Conary 1987 - - Unknown - - - - - DNA Southern fibroblasts - XLI - PubMed: Conary 1987 2/3 complete gene deletion M - - - - - - - 1 Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 Unknown - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Gillard 1987 - - Germline - - - - - DNA Southern blood - XLI - PubMed: Gillard 1987 8/9 complete gene deletion M - - - - - - - 1 Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 Unknown - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Ballabio 1989 - - Unknown - - - - - DNA Southern - - XLI - PubMed: Ballabio 1989 16 men from 10 families complete gene deletion M - Italy - - - - - 1 Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 Unknown - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Shapiro 1989 - - Unknown - - - - - DNA Southern blood - XLI - PubMed: Shapiro 1989 27/30 complete gene deletion M - - - - - - - 1 Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 Unknown - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Sugawara 1993 - - Unknown - - - - - DNA PCR - - XLI - PubMed: Sugawara 1993 6/6 complete gene deletion M - Japan - - - - - 1 Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 Unknown - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Morita 1997 - - Unknown - - - - - DNA PCR - - XLI - PubMed: Morita 1997 8/9 complete gene deletion M - Japan - - - - - 1 Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 Unknown - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 Female homozygous gene deletion included in family D2 PubMed: Murtaza 2014 - - Germline yes - - - - DNA PCR - - XLI - PubMed: Murtaza 2014 Family D2 (includes female patient), D3, D23 M - Pakistan - - - - - 1 Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 Unknown - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del - - STS_000046 - PubMed: Diociaiuti 2016 - - Unknown - - - - - DNA SEQ-NG - - XLI - PubMed: Diociaiuti 2016 8/13 complete gene deletion. patient ID-52, ID-53, ID-54, ID-55, ID-56, ID-57, ID-58, ID-59 M - Italy - - - - - 1 Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 Both (homozygous) - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del 1.6 Mb interstitial deletion - STS_000046 Female patient homozygous for STS deletion PubMed: Nagtzaam 2012 - - Germline yes - - - - DNA arraySNP blood - XLI - PubMed: Nagtzaam 2012 - F - Netherlands - - - - - 1 Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 Unknown - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Saeki 1998 - - Unknown - - - - - DNA PCR - - XLI - PubMed: Saeki 1998 11/12 patient complete gene deletion M - Japan - - - - - 1 Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 Unknown - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Canueta 2010 - - Unknown - - - - - DNA PCR - - XLI - PubMed: Canueta 2010 30/40 complete gene deletion M - Spain - - - - - 1 Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 Unknown - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete STS and HDHD1A gene deletion - STS_000046 - PubMed: Idkowiak 2016 - - Unknown - - - - - DNA MLPA - - XLI - PubMed: Idkowiak 2016 27/30 complete gene deletion M - - - - - - - 1 Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 Unknown - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Diociaiuti 2018 - - Unknown - - - - - DNA MLPA - - XLI - PubMed: Diociaiuti 2018 27/35 patients complete gene deletion M - Italy - - - - - 1 Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 represents 57 individual patients Nagtzaam et al, submitted - - Germline/De novo (untested) - - - - - DNA MLPA blood - XLI - Nagtzaam et al, submitted patient ID 16-72 M - Netherlands - - - - - 57 Michel van Geel
+/. _1_11_ c.-505_*4380{0} r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del del STS gene - STS_000046 - PubMed: Chouk 2022 - - Germline yes - - - - DNA arrayCGH, MLPA, SEQ - - XLI Fam3PatIV7/12 PubMed: Chouk 2022 4-generation family, 8 affected (8M), unaffected heterozygous carrier females M no Tunisia - - - - - 8 Hamza Chouk
+/. _1_11_ c.-505_*4380{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del del STS gene - STS_000046 - PubMed: Zhang 2022 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - WES ? patient PubMed: Zhang 2022 - M - China - - - - - 1 Johan den Dunnen
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