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     

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DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Template     

Technique     

Disease     

Reference     

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Microattribution     

Panel size     

Owner     
./. 13 c.1959T>C - r.(=) p.(=) - ClinVar Unknown g.11120205T>C - Alyaa Al-Khateeb et al. (2011), dbSNP, ClinVar LDLR_000021 rs5925 1/147 - DNA DHPLC, MLPA, PCR FH Alyaa Al-Khateeb et al. (2011) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
./. 13 c.1959T>C - r.(=) p.(=) - ClinVar Unknown g.11120205T>C V632V M Azian et al. (2006), dbSNP, ClinVar LDLR_000021 rs5925 7/33 - DNA DGGE, PCR FH M Azian et al. (2006) - Malaysia - - - - 1 Nuur Athirah Binti Mohd Daud
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