Full data view for gene SRCAP

Information The variants shown are described using the NM_006662.2 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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     
+/+ 34 c.7303C>T r.(?) p.(Arg2435*) Unknown - pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Hood 2012 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - FLHS Pat4 PubMed: Hood 2012 - M - Finland Finnish - - - - 1 Dennis E. Bulman
+/+ 34 c.7303C>T r.(?) p.(Arg2435*) Unknown - pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Hood 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - FLHS Pat9 PubMed: Hood 2012, PubMed: White 2010 - M - - white - - - - 1 Dennis E. Bulman
+/+ 34 c.7303C>T r.(?) p.(Arg2435*) Unknown - pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Hood 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - FLHS Pat10 PubMed: Hood 2012 - M - Brazil Brazil - - - - 1 Dennis E. Bulman
+/+ 34 c.7303C>T r.(?) p.(Arg2435*) Unknown - pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Hood 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - FLHS Pat11 PubMed: Hood 2012 - M - Brazil Brazil - - - - 1 Dennis E. Bulman
+/+ 34 c.7303C>T r.(?) p.(Arg2435*) Unknown - pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Nikkel 2013 - - Germline/De novo (untested) - - - - - DNA SEQ - - FLHS patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - 1 Johan den Dunnen
+/+ 34 c.7303C>T r.(?) p.(Arg2435*) Unknown - pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Nikkel 2013 - - Germline/De novo (untested) - - - - - DNA SEQ - - FLHS patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - 1 Johan den Dunnen
+/+ 34 c.7303C>T r.(?) p.(Arg2435*) Unknown - pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Nikkel 2013 - - Germline/De novo (untested) - - - - - DNA SEQ - - FLHS patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - 1 Johan den Dunnen
+/+ 34 c.7303C>T r.(?) p.(Arg2435*) Unknown - pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Nikkel 2013 - - Germline/De novo (untested) - - - - - DNA SEQ - - FLHS patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - 1 Johan den Dunnen
+/+ 34 c.7303C>T r.(?) p.(Arg2435*) Unknown - pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Nikkel 2013 - - Germline/De novo (untested) - - - - - DNA SEQ - - FLHS patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - 1 Johan den Dunnen
+/+ 34 c.7303C>T r.(?) p.(Arg2435*) Unknown - pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Nikkel 2013 - - Germline/De novo (untested) - - - - - DNA SEQ - - FLHS patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - 1 Johan den Dunnen
+/+ 34 c.7303C>T r.(?) p.(Arg2435*) Unknown - pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Nikkel 2013 - - Germline/De novo (untested) - - - - - DNA SEQ - - FLHS patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - 1 Johan den Dunnen
+/+ 34 c.7303C>T r.(?) p.(Arg2435*) Unknown - pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Nikkel 2013 - - Germline/De novo (untested) - - - - - DNA SEQ - - FLHS patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - 1 Johan den Dunnen
+/+ 34 c.7303C>T r.(?) p.(Arg2435*) Unknown - pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Nikkel 2013 - - Germline/De novo (untested) - - - - - DNA SEQ - - FLHS patient PubMed: Nikkel 2013 2-generation family, 1 affected, unaffected parents; analysis 52 FLHS cases - - - - - - - - 1 Johan den Dunnen
+/+ 34 c.7303C>T r.(?) p.(Arg2435*) Unknown - pathogenic g.30748664C>T g.30737343C>T = - SRCAP_000002 - PubMed: Reschen 2012 - - De novo - - - - - DNA MLPA, SEQ - - MFDGA;MFDM - PubMed: Reschen 2012; PubMed: White 2010 - M no (United Kingdom (Great Britain)) white - - - - 1 Dennis E. Bulman
+/. - c.7303C>T r.(?) p.(Arg2435Ter) Unknown - pathogenic g.30748664C>T g.30737343C>T SRCAP(NM_006662.2):c.7303C>T (p.R2435*), SRCAP(NM_006662.3):c.7303C>T (p.R2435*) - SRCAP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7303C>T r.(?) p.(Arg2435Ter) Unknown - pathogenic g.30748664C>T g.30737343C>T SRCAP(NM_006662.2):c.7303C>T (p.R2435*), SRCAP(NM_006662.3):c.7303C>T (p.R2435*) - SRCAP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7303C>T r.(?) p.(Arg2435Ter) Unknown - pathogenic g.30748664C>T g.30737343C>T SRCAP(NM_006662.2):c.7303C>T (p.R2435*), SRCAP(NM_006662.3):c.7303C>T (p.R2435*) - SRCAP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7303C>T r.7303c>u p.(Arg2435*) Unknown - pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Lee 2019 ClinVar-000746577.1 - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood, fibroblast WES ? Pat2 PubMed: Lee 2019 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.7303C>T r.(?) p.(Arg2435Ter) Unknown - pathogenic g.30748664C>T g.30737343C>T SRCAP(NM_006662.2):c.7303C>T (p.R2435*), SRCAP(NM_006662.3):c.7303C>T (p.R2435*) - SRCAP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 34 c.7303C>T r.(?) p.(Arg2435*) Unknown - pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Le Goff 2013, Journal: Le Goff 2013 - - De novo - - - - - DNA SEQ-NG-I - - FLHS Pat3 PubMed: Le Goff 2013, Journal: Le Goff 2013 - M - France - - - - - 1 Carine Le Goff
+/. 34 c.7303C>T r.(?) p.(Arg2435*) Unknown - pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Zhang 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES FLHS Pat1 PubMed: Zhang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - 1 Johan den Dunnen
+/. 34 c.7303C>T r.(?) p.(Arg2435*) Unknown - pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Zhang 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES FLHS Pat4 PubMed: Zhang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+/. 34 c.7303C>T r.(?) p.(Arg2435*) Unknown - pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Zhang 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES FLHS Pat5 PubMed: Zhang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+/. 34 c.7303C>T r.(?) p.(Arg2435*) Unknown - pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES FLHS Pat10 PubMed: Zhang 2019 2-generation family, 1 affected, unaffected parents M - China - - - - - 1 Johan den Dunnen
+/. 34 c.7303C>T r.(?) p.(Arg2435*) Unknown - pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Zhang 2019 - - De novo - - - - - DNA SEQ, SEQ-NG - WES FLHS Pat11 PubMed: Zhang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - 1 Johan den Dunnen
+?/. 34 c.7303C>T r.(?) p.(Arg2435* ) Unknown ACMG likely pathogenic (dominant) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Squeo 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - 68-gene panel ? GDB1315 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - 1 Johan den Dunnen
+/. - c.7303C>T r.(?) p.(Arg2435Ter) Unknown - pathogenic g.30748664C>T - SRCAP(NM_006662.2):c.7303C>T (p.R2435*), SRCAP(NM_006662.3):c.7303C>T (p.R2435*) - SRCAP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7303C>T r.(?) p.(Arg2435Ter) Unknown - pathogenic (recessive) g.30748664C>T g.30737343C>T - - SRCAP_000002 - PubMed: Ismagilova 2025, Journal: Ismagilova 2025 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - RSTS - PubMed: Ismagilova 2025, Journal: Ismagilova 2025 patient - - Russia - - - - - 1 Johan den Dunnen
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