GENETIC ENCYCLOPEDIA
ABOUT US    

   

NM_000101.4(CYBA):c.155T>C (p.Leu52Pro) AND not provided

Significance: Pathogenic
ClinVar: RCV000059042

Variant: NM_000101.4(CYBA):c.155T>C (p.Leu52Pro)

Type: Variant
Allele: NM_000101.4(CYBA):c.155T>C (p.Leu52Pro) 79100
Gene:
Type: single nucleotide variant
Location: Chr16: 88713557 - assembly GRCh37
Chr16: 88647149 - assembly GRCh38
References: dbSNP: 179363890
UniProtKB/Swiss-Prot: VAR_060577
UniProtKB: P13498#VAR_060577

Condition

Disease: not provided