Details for RELN:c.10108A>G, p.Thr3370Ala

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
103124173103483726
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE RELN
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_005045.3
CDNA CHANGE c.10108A>G
PROTEIN CHANGE p.Thr3370Ala
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00031850.00.00.00.0043510.00.00.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging3.364975Polymorphism
DBSNP ID rs570807790
2 combinations linked to RELN:c.10108A>G, p.Thr3370Ala OLI854; OLI907
2 diseases linked to RELN:c.10108A>G, p.Thr3370Ala Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome
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