chr7:6026801 T>C
Annotations
GenePMS2
TranscriptNM_000535.6
cDNAc.1595A>G
Proteinp.H532R
Functionmissense
Localizationexon
hg19chr7:6026801 T>C
dbSNP
Synonyms
TranscriptcDNAProtein
NM_001322008.1c.1277A>Gp.H426R
NM_001322010.1c.1034A>Gp.H345R
NM_001322004.1c.1190A>Gp.H397R
NM_001322006.1c.1439A>Gp.H480R
NM_001322007.1c.1277A>Gp.H426R
NM_001322013.1c.1022A>Gp.H341R
NM_001322003.1c.1190A>Gp.H397R
NM_001322005.1c.1190A>Gp.H397R
NM_001322009.1c.1190A>Gp.H397R
NM_001322011.1c.662A>Gp.H221R
NM_001322012.1c.662A>Gp.H221R
NM_001322014.1c.1595A>Gp.H532R
NM_001322015.1c.1286A>Gp.H429R
NR_136154.1n.1682A>G
Frequency in gnomAD
GenomeExome
MAX––
AFR––
AMR––
ASJ––
EAS––
FIN––
NFE––
SAS––
ClinVar
IDPhenotypeEffect