chr16:23614833 G>A
Annotations
GenePALB2
TranscriptNM_024675.3
cDNAc.3508C>T
Proteinp.H1170Y
Functionmissense
Localizationexon
hg19chr16:23614833 G>A
dbSNPrs200283306
Frequency in gnomAD
GenomeExome
MAX0.000066650.00008952
AFR00
AMR00
ASJ00
EAS00
FIN00
NFE0.000066650.00008952
SAS–0.00003249
ClinVar
IDPhenotypeEffect
HGMD
IDPhenotypeEffect
CM189992Breast cancerDM?