Details for NSMF:c.421G>A, p.Ala141Thr

CHROMOSOME 9
GENOMIC COORDINATES
hg19hg38
140352066137457614
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NSMF
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001130969.3
CDNA CHANGE c.421G>A
PROTEIN CHANGE p.Ala141Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00032340.00013770.00.00.0038430.05.257e-050.00023184.288e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging2.471873Polymorphism
DBSNP ID rs758054492
1 combination linked to NSMF:c.421G>A, p.Ala141Thr OLI1114
1 disease linked to NSMF:c.421G>A, p.Ala141Thr Kallmann syndrome
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