chr17:41244341 TTGAA>T
Annotations
GeneBRCA1
TranscriptNM_007294.3
cDNAc.3203_3206del
Proteinp.I1068fs
Functionframeshift del
Localizationexon
hg19chr17:41244341 TTGAA>T
dbSNPrs886040102
Synonyms
TranscriptcDNAProtein
NM_007297.3c.3062_3065delp.I1021fs
NM_007300.3c.3203_3206delp.I1068fs
NM_007298.3c.788-1296_788-1293delTTCA
NM_007299.3c.788-1296_788-1293delTTCA
NR_027676.1n.3339_3342delTTCA
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––
ClinVar
IDPhenotypeEffect