Full data view for gene GP1BA

Information The variants shown are described using the NM_000173.5 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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     
+/. 2 c.692A>G - r.(692a>g) p.(Tyr231Cys) Unknown - pathogenic (recessive) g.4836591A>G - g.1000A>G - GP1BA_000085 - - - - Germline yes - - - - DNA SEQ - - BSS - - - M no Argentina white - - - - 1 Adriana Ines Woods
+?/. - c.692A>G - r.(?) p.(Tyr231Cys) Parent #2 ACGS likely pathogenic g.4836591A>G - - - GP1BA_000085 - - - - Germline - - - - - DNA PCR - - BSS - - - F no Argentina white - - - - 1 Adriana Ines Woods
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