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166848071 G/A: c.5714C>T: p.Pro1905Leu: Missense

Reference genomes Human GRCh37/hg19
Genomic position 166848071
Ref/Alt G/A
Genbank transcript ID NM_001165963.1
cds change c.5714C>T
cds alteration type Non-synonymous
Zygosis Heterozygous
AA change p.Pro1905Leu
AA alteration type Missense
Detection methods WES, PCR-Sanger
Known variant Unknown
Reference ID .
MAF in 1000G .
MAF in ExAC .
MAF in genomAD .
Exon/Intron Exon26
Protein Domain C-terminus
Inheritance De novo
Variant Classification Uncertain significance
Clinical diagnosis Autism Spectrum Disorders
Gender Male
Ethnogenesis Caucasian(Non-hispanic)
Family history Paternal cousin: cerebral palsy; Mother: migraines; Maternal grandparents: migraines; Maternal aunt: Lymphangioleicmyomatosis; Maternal uncle: Lymphangioleicmyomatosis
Age of seizure onset Unknown
Short descriptions for Cases Corrected p.P1894L (NM_006920.4)
References O'Roak, Brian J., et al. "Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations." Nature genetics 43.6 (2011): 585.
co-existing variant(s)