Full data view for gene SRSF1

Information The variants shown are described using the NM_006924.4 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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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_4_ c.-209_*4487{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_55806534)_(56540597_?)del - 7q22 (558065434-5654497)x1 - SRSF1_000014 734 kb deletion PubMed: Bogaert 2023, Journal: Bogaert 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat6 PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents F - - - - - - - 1 Johan den Dunnen
+/. _1_4_ c.-209_*4487{0} r.0 p.0 Unknown - pathogenic (dominant) g.(?_55442363)_(56309063_?)del - - - SRSF1_000014 866 kb deletion; also carries 15q11.2 BP1-BP2 microdeletion which can be associated with developmental, language delay, neurobehavioral disturbances, psychiatric problems PubMed: Bogaert 2023, Journal: Bogaert 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat17 PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.71C>T r.(?) p.(Pro24Leu) Unknown - likely pathogenic (dominant) g.56084428G>A g.58007067G>A - - SRSF1_000001 ACMG PP3 PM2 PP2 PS2 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 - - De novo - - - - - DNA SEQ-NG - WES NDD Pat13 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.82C>T r.(?) p.(Arg28Ter) Unknown - pathogenic (dominant) g.56084417G>A g.58007056G>A - - SRSF1_000011 ACMG PVS1 PM2 PS2 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat7 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.97G>T r.(?) p.(Glu33Ter) Unknown - pathogenic (dominant) g.56084402C>A g.58007041C>A - - SRSF1_000010 ACMG PVS1 PM2 PS2 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES HPS, NDD Pat10 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected (incl. Hermansky Pudlak syndrome), unaffected carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.119G>T r.(?) p.(Gly40Val) Unknown - likely pathogenic (dominant) g.56084380C>A g.58007019C>A - - SRSF1_000009 ACMG PS2 PM2 PP3 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat9 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.130G>A r.(?) p.(Asp44Asn) Unknown - VUS g.56084369C>T g.58007008C>T - - SRSF1_000008 ACMG PP2 PM2 PS2 BP4 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat16 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.208G>A r.(?) p.(Ala70Thr) Unknown - likely pathogenic (dominant) g.56083875C>T g.58006514C>T - - SRSF1_000007 ACMG PS2 PM2 PP3 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat12 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.231T>A r.(?) p.(Tyr77Ter) Unknown - pathogenic (dominant) g.56083852A>T g.58006491A>T - - SRSF1_000006 ACMG PVS1 PM2 PS2 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat14 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.251T>G r.(?) p.(Leu84Arg) Unknown - likely pathogenic (dominant) g.56083832A>C g.58006471A>C - - SRSF1_000005 ACMG PS2 PM2 PP3 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat15 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.377_378del r.(?) p.(Ser126TrpfsTer17) Unknown - pathogenic (dominant) g.56083708_56083709del g.58006347_58006348del - - SRSF1_000004 ACMG PVS1 PM2 PS2; not inherited from mother Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected non-carrier mother M - - - - - - - 1 Johan den Dunnen
+?/. - c.478G>A r.(?) p.(Val160Met) Unknown - likely pathogenic (dominant) g.56083236C>T g.58005875C>T - - SRSF1_000003 ACMG PS2 PM2 PP3 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.478G>A r.(?) p.(Val160Met) Unknown - likely pathogenic (dominant) g.56083236C>T g.58005875C>T - - SRSF1_000003 ACMG PS2 PM2 PP3 PubMed: Bogaert 2023, Journal: Bogaert 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD FamPat2 PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, affected sister/brother, unaffected carrier parents F - - - - - - - 2 Johan den Dunnen
+?/. - c.478G>A r.(?) p.(Val160Met) Unknown - likely pathogenic (dominant) g.56083236C>T g.58005875C>T - - SRSF1_000003 ACMG PS2 PM2 PP3 PubMed: Bogaert 2023, Journal: Bogaert 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD FamPat3 PubMed: Bogaert 2023, Journal: Bogaert 2023 brother M - - - - - - - 1 Johan den Dunnen
+?/. - c.548A>G r.(?) p.(His183Arg) Unknown - likely pathogenic (dominant) g.56083166T>C g.58005805T>C - - SRSF1_000002 ACMG PS2 PM2 PP3 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat8 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 PubMed: Bogaert 2023, {DOI:Bogaert 2023:10.1016/j.ajhg.2023.03.016} F - - - - - - - 1 Johan den Dunnen
+/. - c.579dup r.(?) p.(Val194Serfs*2) Unknown - pathogenic (dominant) g.56082937dup g.58005576dup - - SRSF1_000012 ACMG PVS1 PM2 PS2 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat5 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.601del r.(?) p.(Ser201Valfs*87) Unknown - pathogenic (dominant) g.56082914del g.58005553del - - SRSF1_000013 ACMG PVS1 PM2 PS2 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat11 Bogaert BeSHG2022, AbsT23, PubMed: Bogaert 2023, Journal: Bogaert 2023 2-generation family, 1 affected, unaffected carrier parents F - - - - - - - 1 Johan den Dunnen
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