chr7:6026495 T>C
Annotations
GenePMS2
TranscriptNM_000535.6
cDNAc.1901A>G
Proteinp.H634R
Functionmissense
Localizationexon
hg19chr7:6026495 T>C
dbSNPrs767904893
Synonyms
TranscriptcDNAProtein
NM_001322003.1c.1496A>Gp.H499R
NM_001322004.1c.1496A>Gp.H499R
NM_001322005.1c.1496A>Gp.H499R
NM_001322006.1c.1745A>Gp.H582R
NM_001322007.1c.1583A>Gp.H528R
NM_001322008.1c.1583A>Gp.H528R
NM_001322009.1c.1496A>Gp.H499R
NM_001322010.1c.1340A>Gp.H447R
NM_001322011.1c.968A>Gp.H323R
NM_001322012.1c.968A>Gp.H323R
NM_001322013.1c.1328A>Gp.H443R
NM_001322014.1c.1901A>Gp.H634R
NM_001322015.1c.1592A>Gp.H531R
NR_136154.1n.1988A>G
Frequency in gnomAD
GenomeExome
MAX–0.0002
AFR–0
AMR–0.0002
ASJ–0
EAS–0
FIN–0
NFE–0
SAS–0
ClinVar
IDPhenotypeEffect