Details for PROKR2:c.253C>T, p.Arg85Cys

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
52947635314117
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PROKR2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_144773.3
CDNA CHANGE c.253C>T
PROTEIN CHANGE p.Arg85Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
None0.00080.00140.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00059250.0012920.0014170.0020830.00021750.00.00036920.0019540.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.012438Disease causing
DBSNP ID rs141090506
2 combinations linked to PROKR2:c.253C>T, p.Arg85Cys OLI014; OLI1110
2 diseases linked to PROKR2:c.253C>T, p.Arg85Cys Pituitary stalk interruption syndrome; Kallmann syndrome

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