chr7:6027128 G>C
Annotations
GenePMS2
TranscriptNM_000535.6
cDNAc.1268C>G
Proteinp.A423G
Functionmissense
Localizationexon
hg19chr7:6027128 G>C
dbSNPrs756883400
Synonyms
TranscriptcDNAProtein
NM_001322008.1c.950C>Gp.A317G
NM_001322010.1c.707C>Gp.A236G
NM_001322004.1c.863C>Gp.A288G
NM_001322006.1c.1112C>Gp.A371G
NM_001322007.1c.950C>Gp.A317G
NM_001322013.1c.695C>Gp.A232G
NM_001322003.1c.863C>Gp.A288G
NM_001322005.1c.863C>Gp.A288G
NM_001322009.1c.863C>Gp.A288G
NM_001322011.1c.335C>Gp.A112G
NM_001322012.1c.335C>Gp.A112G
NM_001322014.1c.1268C>Gp.A423G
NM_001322015.1c.959C>Gp.A320G
NR_136154.1n.1355C>G
Frequency in gnomAD
GenomeExome
MAX0.00090.00005385
AFR00
AMR00.00002979
ASJ00
EAS00
FIN00
NFE0.00090.00005385
SAS–0
ClinVar
IDPhenotypeEffect