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chr17:41242952 GCTTTTTAC>G

Annotations

GeneBRCA1
TranscriptNM_007294.3
cDNAc.4185+1_4185+8delGTAAAAAG
Protein
Functionsplicing
Localizationsplice site
hg19chr17:41242952 GCTTTTTAC>G
dbSNP

Synonyms

TranscriptcDNAProtein
NM_007297.3c.4044+1_4044+8delGTAAAAAG
NM_007298.3c.876+1_876+8delGTAAAAAG
NM_007299.3c.876+1_876+8delGTAAAAAG
NM_007300.3c.4185+1_4185+8delGTAAAAAG
NR_027676.1n.4321+1_4321+8delGTAAAAAG

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS