Gene name | Chromosome localization (GRCh37/hg19) | Variant | NM | Location | Homozygosis/Heterozygosis | Amino acid alteration | Inheritance model | Variation source |
---|---|---|---|---|---|---|---|---|
ECHS1 | Chr10:135183403 | c.414 + 5G > A | NM_004092.3 | Intron3 | Heterozygosis | N/A | Autosomal recessive inheritance | Father |
Chr10:135183512 | c.310C > G | CDS | Heterozygosis | p.Q104E | Autosomal recessive inheritance | Mather |