Variant #0000000951 (NC_000016.10:g.23630471T>C, PALB2(NM_024675.3):c.1685-2A>G)

Individual ID 00000193
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.23630471T>C
Published as c.1691-2A>G
Reference Xiaohong R Yang et al. (2017), dbSNP, ClinVar
DB-ID PALB2_000014
dbSNP ID rs754660432
Frequency 1/4
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
PALB2 NM_024675.3 ./. - c.1685-2A>G - r.spl? p.? - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000208 DNA MLPA;SEQ PALB2 3 Nuur Athirah Binti Mohd Daud