Full data view for gene LDLR

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

4 entries on 1 page. Showing entries 1 - 4.
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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     

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Ethnic origin     

Population     

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Microattribution     

Panel size     

Owner     
./. 12 c.1773C>T - r.(=) p.(=) - ClinVar Unknown g.11116926C>T - Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar LDLR_000020 rs688 7/147 - DNA DHPLC, MLPA, PCR FH Alyaa Al-Khateeb et al. (2011) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
./. 12 c.1773C>T - r.(=) p.(=) - ClinVar Unknown g.11116926C>T c.1773T>C dbSNP, ClinVar LDLR_000020 rs688 19/40 - DNA DHPLC, SEQ FH Alyaa Al-Khateeb et al. (2016) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
./. 12 c.1773C>T - r.(=) p.(=) - ClinVar Unknown g.11116926C>T N570N M Azian et al. (2006), dbSNP, ClinVar LDLR_000020 rs688 5/33 - DNA DGGE, PCR FH M Azian et al. (2006) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
+/. 12i c.1773C>T p.Asn591Asn r.(=) p.(=) - Benign/Likely benign​ Unknown g.11116926C>T - {DOI:Nor Idahriani Muhd Nor:10.35119/MYJO.V1I2.18} LDLR_000020 rs688 - - DNA DHPLC, PCR, SEQ FH Nor Idahriani Muhd Nor - Malaysia Malay - - - 1 Nur Aisyah Athirah
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