×

Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Skin/Hair/Eye Pigmentation 2 (SHEP2, MC1R) Skin and Hair Hypopigmentation Autosomal Recessive 16q24.3 Deletion MC1R 520_523delGTC Val174del 0/Shahzad et al., 2015
Skin/Hair/Eye Pigmentation 2 (SHEP2, MC1R) Skin and Hair Hypopigmentation Autosomal Recessive 16q24.3 Missense MC1R 515G>T Ser172Ile Amino Acid Substitution 0/Shahzad et al., 2015
Skin/Hair/Eye Pigmentation 2 (SHEP2, MC1R) Skin and Hair Hypopigmentation Autosomal Recessive 16q24.3 Missense MC1R 512C>G Ala171Gly Amino Acid Substitution 0/Shahzad et al., 2015
Skin/Hair/Eye Pigmentation 2 (SHEP2, MC1R) Skin and Hair Hypopigmentation Autosomal Recessive 16q24.3 Missense MC1R 265G>C Gly89Arg Amino Acid Substitution 0/Shahzad et al., 2015
Skin/Hair/Eye Pigmentation 2 (SHEP2, MC1R) Skin and Hair Hypopigmentation Autosomal Recessive 16q24.3 Missense MC1R 880G>C Asp294His Amino Acid Substitution 0/Shahzad et al., 2015
Skin/Hair/Eye Pigmentation 2 (SHEP2, MC1R) Skin and Hair Hypopigmentation Autosomal Recessive 16q24.3 Nonsense MC1R 894C>G Tyr298* Premature Termination 0/Shahzad et al., 2015