Full data view for gene SNF8

Information The variants shown are described using the NM_007241.2 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     
+?/. - c.236C>T r.(?) p.(Pro79Leu) Parent #1 - likely pathogenic (recessive) g.47018294G>A g.48940932G>A - - SNF8_000007 - PubMed: Brugger 2024, Journal: Brugger 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES trio ? FamBPatII1 PubMed: Brugger 2024, Journal: Brugger 2024 family, 1 affected, unaffected heterozygous parents M - Germany - >4y6m - - - 1 Johan den Dunnen
+?/. - c.236C>T r.(?) p.(Pro79Leu) Parent #1 - likely pathogenic (recessive) g.47018294G>A g.48940932G>A - - SNF8_000007 - PubMed: Brugger 2024, Journal: Brugger 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES trio ? FamFPatII1 PubMed: Brugger 2024, Journal: Brugger 2024 family, 1 affected, unaffected heterozygous parents F - - - >4y - - - 1 Johan den Dunnen
-?/. - c.245-149C>T r.(=) p.(=) Unknown - likely benign g.47014635G>A - SNF8(NM_001317194.2):c.-148+8C>T - SNF8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.304G>A r.(?) p.(Val102Ile) Parent #2 - likely pathogenic (recessive) g.47014427C>T g.48937065C>T - - SNF8_000006 - PubMed: Brugger 2024, Journal: Brugger 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamDPatII2 PubMed: Brugger 2024, Journal: Brugger 2024 family, 1 affected, unaffected heterozygous parents M - Italy - >18y - - - 1 Johan den Dunnen
+?/. - c.304G>A r.(?) p.(Val102Ile) Parent #2 - likely pathogenic (recessive) g.47014427C>T g.48937065C>T - - SNF8_000006 - PubMed: Brugger 2024, Journal: Brugger 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamEPatII1 PubMed: Brugger 2024, Journal: Brugger 2024 family, 2 affected brothers, unaffected heterozygous parents M - Italy - >27y - - - 2 Johan den Dunnen
+/. - c.304G>A r.(?) p.(Val102Ile) Parent #2 - pathogenic (recessive) g.47014427C>T g.48937065C>T - - SNF8_000006 - PubMed: Brugger 2024, Journal: Brugger 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamEPatII2 PubMed: Brugger 2024, Journal: Brugger 2024 brother M - Italy - >17y - - - 1 Johan den Dunnen
+/. - c.304G>A r.(?) p.(Val102Ile) Parent #2 - pathogenic (recessive) g.47014427C>T g.48937065C>T - - SNF8_000006 - PubMed: Brugger 2024, Journal: Brugger 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES trio ? FamFPatII1 PubMed: Brugger 2024, Journal: Brugger 2024 family, 1 affected, unaffected heterozygous parents F - - - >4y - - - 1 Johan den Dunnen
+?/. - c.423-1G>C r.spl p.? Parent #1 - likely pathogenic (recessive) g.47010709C>G g.48933347C>G - - SNF8_000005 - PubMed: Brugger 2024, Journal: Brugger 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamDPatII2 PubMed: Brugger 2024, Journal: Brugger 2024 family, 1 affected, unaffected heterozygous parents M - Italy - >18y - - - 1 Johan den Dunnen
+?/. - c.501C>A r.(?) p.(Tyr167Ter) Parent #1 - likely pathogenic (recessive) g.47010630G>T g.48933268G>T - - SNF8_000004 - PubMed: Brugger 2024, Journal: Brugger 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES trio ? FamAPatII2 PubMed: Brugger 2024, Journal: Brugger 2024 family, 2 affected sisters, unaffected heterozygous parents F - Germany - 8m - - - 2 Johan den Dunnen
+?/. - c.501C>A r.(?) p.(Tyr167Ter) Parent #1 - likely pathogenic (recessive) g.47010630G>T g.48933268G>T - - SNF8_000004 - PubMed: Brugger 2024, Journal: Brugger 2024 - - Germline yes - - - - DNA SEQ - - ? FamAPatII3 PubMed: Brugger 2024, Journal: Brugger 2024 sister F - Germany - 3m - - - 1 Johan den Dunnen
+?/. - c.572G>A r.(?) p.(Gly191Asp) Parent #2 - likely pathogenic (recessive) g.47009072C>T g.48931710C>T - - SNF8_000003 - PubMed: Brugger 2024, Journal: Brugger 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES trio ? FamAPatII2 PubMed: Brugger 2024, Journal: Brugger 2024 family, 2 affected sisters, unaffected heterozygous parents F - Germany - 8m - - - 2 Johan den Dunnen
+?/. - c.572G>A r.(?) p.(Gly191Asp) Parent #2 - likely pathogenic (recessive) g.47009072C>T g.48931710C>T - - SNF8_000003 - PubMed: Brugger 2024, Journal: Brugger 2024 - - Germline yes - - - - DNA SEQ - - ? FamAPatII3 PubMed: Brugger 2024, Journal: Brugger 2024 sister F - Germany - 3m - - - 1 Johan den Dunnen
+?/. - c.572G>A r.(?) p.(Gly191Asp) Parent #2 - likely pathogenic (recessive) g.47009072C>T g.48931710C>T - - SNF8_000003 - PubMed: Brugger 2024, Journal: Brugger 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES trio ? FamBPatII1 PubMed: Brugger 2024, Journal: Brugger 2024 family, 1 affected, unaffected heterozygous parents M - Germany - >4y6m - - - 1 Johan den Dunnen
+?/. - c.623G>T r.(?) p.(Arg208Leu) Both (homozygous) - likely pathogenic (recessive) g.47009021C>A g.48931659C>A - - SNF8_000002 - PubMed: Brugger 2024, Journal: Brugger 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES trio ? FamCPatII1 PubMed: Brugger 2024, Journal: Brugger 2024 family, affected fetus/sister, unaffected heterozygous parents M - Israel - <0d - - - 2 Johan den Dunnen
+?/. - c.623G>T r.(?) p.(Arg208Leu) Both (homozygous) - likely pathogenic (recessive) g.47009021C>A g.48931659C>A - - SNF8_000002 - PubMed: Brugger 2024, Journal: Brugger 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES trio ? FamCPatII2 PubMed: Brugger 2024, Journal: Brugger 2024 sister F - Israel - 54d - - - 1 Johan den Dunnen
+?/. - c.673_683delinsTGGA r.(?) p.(Asp225TrpfsTer99) Parent #1 - likely pathogenic (recessive) g.47007931_47007941delinsTCCA g.48930569_48930579delinsTCCA - - SNF8_000001 - PubMed: Brugger 2024, Journal: Brugger 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamEPatII1 PubMed: Brugger 2024, Journal: Brugger 2024 family, 2 affected brothers, unaffected heterozygous parents M - Italy - >27y - - - 2 Johan den Dunnen
+?/. - c.673_683delinsTGGA r.(?) p.(Asp225TrpfsTer99) Parent #1 - likely pathogenic (recessive) g.47007931_47007941delinsTCCA g.48930569_48930579delinsTCCA - - SNF8_000001 - PubMed: Brugger 2024, Journal: Brugger 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamEPatII2 PubMed: Brugger 2024, Journal: Brugger 2024 brother M - Italy - >17y - - - 1 Johan den Dunnen
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