Full data view for gene LDLR

Information The variants shown are described using the NM_000527.4 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

Allele     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Template     

Technique     

Disease     

Reference     

Gender     

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Ethnic origin     

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Microattribution     

Panel size     

Owner     
+?/. 4 c.601G>A - r.(?) p.(Glu201Lys) - ClinVar Unknown g.11105507G>A - Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar LDLR_000026 rs879254589 9/147 - DNA DHPLC, MLPA, PCR FH Alyaa Al-Khateeb et al. (2011) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 4 c.601G>A - r.(?) p.(Glu201Lys) - Likely pathogenic​ Unknown g.11105507G>A - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18} LDLR_000026 rs879254589 - - DNA DHPLC, PCR, SEQ FH Nor Idahriani Muhd Nor - Malaysia Malay - - - 1 Nur Aisyah Athirah
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