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chr11:108175401 G>A

Annotations

GeneATM
TranscriptNM_000051.3
cDNAc.5497-1G>A
Protein
Functionsplicing
Localizationsplice site
hg19chr11:108175401 G>A

Synonyms

TranscriptcDNAProtein
NM_001351834.1c.5497-1G>A
NM_001351835.1c.*75343G>A
NM_001351836.1c.*75343G>A

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS

ClinVar

IDPhenotypeEffect
RCV000254723.1not providedLikely pathogenic
RCV000220437.2Hereditary cancer-predisposing syndromeLikely pathogenic