chr7:6026754 C>T
Annotations
GenePMS2
TranscriptNM_000535.6
cDNAc.1642G>A
Proteinp.D548N
Functionmissense
Localizationexon
hg19chr7:6026754 C>T
dbSNPrs374591423
Synonyms
TranscriptcDNAProtein
NM_001322008.1c.1324G>Ap.D442N
NM_001322010.1c.1081G>Ap.D361N
NM_001322004.1c.1237G>Ap.D413N
NM_001322006.1c.1486G>Ap.D496N
NM_001322007.1c.1324G>Ap.D442N
NM_001322013.1c.1069G>Ap.D357N
NM_001322003.1c.1237G>Ap.D413N
NM_001322005.1c.1237G>Ap.D413N
NM_001322009.1c.1237G>Ap.D413N
NM_001322011.1c.709G>Ap.D237N
NM_001322012.1c.709G>Ap.D237N
NM_001322014.1c.1642G>Ap.D548N
NM_001322015.1c.1333G>Ap.D445N
NR_136154.1n.1729G>A
Frequency in gnomAD
GenomeExome
MAX–0.00002692
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.00002692
SAS–0
ClinVar
IDPhenotypeEffect