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)     

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dbSNP ID     

Frequency     

Variant remarks     

Template     

Technique     

Disease     

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Owner     
./. 9 c.1194C>T - r.(=) p.(=) - ClinVar Unknown g.11113285C>T - Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar LDLR_000011 rs13306498 5/147 - DNA DHPLC, MLPA, PCR FH Alyaa Al-Khateeb et al. (2011) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 9 c.1194C>T p.Ile398Ile r.(=) p.(=) - Conflicting interpretations of pathogenicity Unknown g.11113285C>T - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18} LDLR_000011 rs13306498 - - DNA DHPLC, PCR, SEQ FH Nor Idahriani Muhd Nor - Malaysia Malay - - - 1 Nur Aisyah Athirah
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