ClinVar

NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=)

Gene:

ATP13A2:ATPase cation transporting 13A2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.13

Genomic location:

• Chr1: 16986953 (on Assembly GRCh38)
• Chr1: 17313448 (on Assembly GRCh37)

Preferred name:

NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=)

HGVS:

• NC_000001.11:g.16986953G>A
• NG_009054.1:g.29976C>T
• NM_001141973.3:c.3072C>T
• NM_001141974.3:c.2955C>T
• NM_022089.4:c.3087C>TMANE SELECT
• NP_001135445.1:p.Phe1024=
• NP_001135446.1:p.Phe985=
• NP_071372.1:p.Phe1029=
• LRG_834t1:c.3087C>T
• LRG_834:g.29976C>T
• LRG_834p1:p.Phe1029=
• NC_000001.10:g.17313448G>A
• NM_022089.2:c.3087C>T
• NM_022089.3:c.3087C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs184878897

NCBI 1000 Genomes Browser:

rs184878897

Molecular consequence:

• NM_001141973.3:c.3072C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001141974.3:c.2955C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022089.4:c.3087C>T - synonymous variant - [Sequence Ontology: SO:0001819]