Variant #0000001710 (NC_000004.12:g.94474237C>T, NC_000004.12(NM_006457.4):c.96+18853C>T (PDLIM5))

Individual ID 00000371
Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.94474237C>T
Published as -
Reference dbSNP
DB-ID PDLIM5_000005 See all 7 reported entries
dbSNP ID rs2438146
Frequency 21/74
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 2021-01-20 18:52:20 +08:00 (CST)
Date last edited 2021-09-02 10:21:54 +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     
PDLIM5 NM_006457.4 +/. - c.96+18853C>T - r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000385 DNA PCR PDLIM5 6 Nuur Athirah Binti Mohd Daud