Variant #0000000992 (NC_000019.10:g.11126329T>C, NC_000019.10(NM_000527.4):c.2312-1679T>C (LDLR))

Individual ID 00000197
Chromosome 19
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.11126329T>C
Published as -
Reference Livy Alex et al. (2012), dbSNP
DB-ID LDLR_000034
dbSNP ID rs10422244
Frequency 1/2
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-11-29 16:22:59 +08:00 (CST)
Date last edited 2021-08-24 15:40:35 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
LDLR NM_000527.4 +?/. 15i c.2312-1679T>C - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000212 DNA SEQ-NG-I LDLR 2 Nuur Athirah Binti Mohd Daud