All variants in the ATP6AP2 gene

Information The variants shown are described using the NM_005765.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.268C>G r.(?) p.(Pro90Ala) - likely benign g.40450585C>G g.40591333C>G ATP6AP2(NM_005765.2):c.268C>G (p.P90A), ATP6AP2(NM_005765.3):c.268C>G (p.P90A) - ATP6AP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.268C>G r.(?) p.(Pro90Ala) - benign g.40450585C>G g.40591333C>G ATP6AP2(NM_005765.2):c.268C>G (p.P90A), ATP6AP2(NM_005765.3):c.268C>G (p.P90A) - ATP6AP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.268C>G r.(?) p.(Pro90Ala) - benign g.40450585C>G g.40591333C>G ATP6AP2(NM_005765.2):c.268C>G (p.P90A), ATP6AP2(NM_005765.3):c.268C>G (p.P90A) - ATP6AP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
Legend   How to query