Full data view for gene OBSL1

Information The variants shown are described using the NM_015311.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.1303del r.(?) p.(Arg436Glyfs*14) Both (homozygous) - pathogenic (recessive) g.220432671del g.219567949del NM_015311.2:c.1306delC:p.(Arg436Glyfs*14) - OBSL1_000065 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 09DG00617 PubMed: Maddirevula 2018 isolated case F yes - Arab - 0 - - 1 LOVD
+/. - c.1303del r.(?) p.(Arg436Glyfs*14) Both (homozygous) - pathogenic (recessive) g.220432671del g.219567949del NM_015311.2:c.1306delC:p.(Arg436Glyfs*14) - OBSL1_000065 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 09DG00622 , 09DG00623 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - 0 - - 2 LOVD
+/. - c.1303del r.(?) p.(Arg436Glyfs*14) Both (homozygous) - pathogenic (recessive) g.220432671del g.219567949del NM_015311.2:c.1306delC:p.(Arg436Glyfs*14) - OBSL1_000065 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 10DG0406 ,10DG0407 , 10DG0408 PubMed: Maddirevula 2018 family, 3 affected (2F, M) F;M yes - Arab - 0 - - 3 LOVD
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