Details for NSMF:c.757G>A, p.Ala253Thr

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
140349707137455255
VARIANT EFFECT missense
ANNOTATION FLAG manually_corrected
GENE NSMF
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_015537.4
CDNA CHANGE c.757G>A
PROTEIN CHANGE p.Ala253Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0002326.203e-055.783e-050.05.441e-050.00.00045290.00049150.0

ESP
AAEA
0.00045390.0003488
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging3.471515Polymorphism
DBSNP ID rs142726563
1 combination linked to NSMF:c.757G>A, p.Ala253Thr OLI511
1 disease linked to NSMF:c.757G>A, p.Ala253Thr Kallmann syndrome
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