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chr14:68352674 C>T

Annotations

GeneRAD51B
TranscriptNM_001321814.1
cDNAc.541C>T
Proteinp.R181W
Functionmissense
Localizationexon
hg19chr14:68352674 C>T

Synonyms

TranscriptcDNAProtein
NM_001321812.1c.541C>Tp.R181W
NM_001321815.1c.427C>Tp.R143W
NM_001321809.1c.541C>Tp.R181W
NM_001321810.1c.541C>Tp.R181W
NM_001321818.1c.541C>Tp.R181W
NM_001321819.1c.541C>Tp.R181W
NM_001321821.1c.541C>Tp.R181W
NM_002877.5c.541C>Tp.R181W
NM_133509.3c.541C>Tp.R181W
NM_133510.3c.541C>Tp.R181W
NM_001321817.1c.184C>Tp.R62W

Frequency in gnomAD

GenomeExome
MAX0.00050.0002
AFR0.00010
AMR00
ASJ00
EAS00
FIN0.00920.012
NFE0.00050.0002
SAS0.00003261

HGMD

IDPhenotypeEffect
CM165870Breast cancerDM