chr11:108165730 G>A
Annotations
GeneATM
TranscriptNM_000051.3
cDNAc.4853G>A
Proteinp.R1618Q
Functionmissense
Localizationexon
hg19chr11:108165730 G>A
dbSNPrs765759912
Synonyms
TranscriptcDNAProtein
NM_001351834.1c.4853G>Ap.Arg1618Gln
NM_001351835.1c.*65672G>A
NM_001351836.1c.*65672G>A
Frequency in gnomAD
GenomeExome
MAX–0.0003
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.00002688
SAS–0.0003
ClinVar
IDPhenotypeEffect