SLC4A4, solute carrier family 4 member 4, 8671

N. diseases: 58; N. variants: 11
Disease: Renal Tubular Acidosis, Type II ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1203164637
rs1203164637
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C0268435
Disease:
Renal Tubular Acidosis, Type II 		0.020 GeneticVariation BEFREE Substitution of pRTA residues with cysteines impaired the membrane trafficking of R510C and R881C, the remaining membrane-processed constructs had various impaired transport function. 20197274 2010
dbSNP: rs1203164637
rs1203164637
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
CUI: C0268435
Disease:
Renal Tubular Acidosis, Type II 		0.020 GeneticVariation BEFREE Recently, a novel homozygous missense mutant (R881C) of NBCe1-A was reported from a patient with a severe pRTA phenotype. 16707554 2006