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chr14:68352608 C>T

Annotations

GeneRAD51B
TranscriptNM_001321814.1
cDNAc.475C>T
Proteinp.R159C
Functionmissense
Localizationexon
hg19chr14:68352608 C>T

Synonyms

TranscriptcDNAProtein
NM_001321812.1c.475C>Tp.R159C
NM_001321815.1c.361C>Tp.R121C
NM_001321809.1c.475C>Tp.R159C
NM_001321810.1c.475C>Tp.R159C
NM_001321818.1c.475C>Tp.R159C
NM_001321819.1c.475C>Tp.R159C
NM_001321821.1c.475C>Tp.R159C
NM_002877.5c.475C>Tp.R159C
NM_133509.3c.475C>Tp.R159C
NM_133510.3c.475C>Tp.R159C
NM_001321817.1c.118C>Tp.R40C

Frequency in gnomAD

GenomeExome
MAX0.00010.0001
AFR00
AMR00.00005979
ASJ00
EAS00
FIN00
NFE0.00010.0001
SAS0.00003266

HGMD

IDPhenotypeEffect
CM1313339Breast and/or ovarian cancerDM