ClinVar

NM_022089.4(ATP13A2):c.1205C>T (p.Thr402Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.13

Genomic location:

• Chr1: 16996487 (on Assembly GRCh38)
• Chr1: 17322982 (on Assembly GRCh37)

Preferred name:

NM_022089.4(ATP13A2):c.1205C>T (p.Thr402Met)

HGVS:

• NC_000001.11:g.16996487G>A
• NG_009054.1:g.20442C>T
• NM_001141973.3:c.1190C>T
• NM_001141974.3:c.1190C>T
• NM_022089.4:c.1205C>TMANE SELECT
• NP_001135445.1:p.Thr397Met
• NP_001135446.1:p.Thr397Met
• NP_071372.1:p.Thr402Met
• LRG_834t1:c.1205C>T
• LRG_834:g.20442C>T
• LRG_834p1:p.Thr402Met
• NC_000001.10:g.17322982G>A

This HGVS expression did not pass validation

Protein change:

T397M

Links:

dbSNP: rs763632781

NCBI 1000 Genomes Browser:

rs763632781

Molecular consequence:

• NM_001141973.3:c.1190C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001141974.3:c.1190C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022089.4:c.1205C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1