Details for MAMLD1:c.1985A>G, p.Asn662Ser

CHROMOSOME X
GENOMIC COORDINATES
hg19hg38
149642019150473747
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE MAMLD1
REFERENCE ALLELE A
ALTERNATE ALLELE G
TRANSCRIPT NM_001177465.3
CDNA CHANGE c.1985A>G
PROTEIN CHANGE p.Asn662Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.06520.0070.10690.0550.14620.0404

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.110.023260.10110.15650.057290.12540.14230.11730.04911

ESP
AAEA
0.029990.1451
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign0.375358Polymorphism
DBSNP ID rs2073043
1 combination linked to MAMLD1:c.1985A>G, p.Asn662Ser OLI299
1 disease linked to MAMLD1:c.1985A>G, p.Asn662Ser Non-syndromic posterior hypospadias
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