This spontaneous single nucleotide deletion (c.6748Gdel) in exon 31, found in the Kunming strain, causes a frameshift and premature stop codon (TAA) in place of valine codon 2250 (p.V2250*fs*1). (J:273686)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count