GENETIC ENCYCLOPEDIA
ABOUT US    

   

NM_000064.4(C3):c.640C>T (p.Pro214Ser) AND Atypical hemolytic-uremic syndrome 5

Significance: Likely pathogenic
ClinVar: RCV000184049

Variant: NM_000064.4(C3):c.640C>T (p.Pro214Ser)

Type: Variant
Allele: NM_000064.4(C3):c.640C>T (p.Pro214Ser) 198641
Gene:
Type: single nucleotide variant
Location: Chr19: 6714219 - assembly GRCh37
Chr19: 6714208 - assembly GRCh38
References: dbSNP: 794729228

Condition

Disease: Atypical hemolytic-uremic syndrome 5