ClinVar

NM_001611.5(ACP5):c.469A>G (p.Thr157Ala)

Gene:

ACP5:acid phosphatase 5, tartrate resistant [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 11576509 (on Assembly GRCh38)
• Chr19: 11687324 (on Assembly GRCh37)

Preferred name:

NM_001611.5(ACP5):c.469A>G (p.Thr157Ala)

HGVS:

• NC_000019.10:g.11576509T>C
• NG_028127.1:g.7478A>G
• NM_001111034.3:c.469A>G
• NM_001111035.3:c.469A>G
• NM_001111036.3:c.469A>G
• NM_001322023.2:c.469A>G
• NM_001611.5:c.469A>GMANE SELECT
• NP_001104504.1:p.Thr157Ala
• NP_001104505.1:p.Thr157Ala
• NP_001104506.1:p.Thr157Ala
• NP_001308952.1:p.Thr157Ala
• NP_001602.1:p.Thr157Ala
• LRG_1218t1:c.469A>G
• LRG_1218:g.7478A>G
• LRG_1218p1:p.Thr157Ala
• NC_000019.9:g.11687324T>C
• NM_001111035.2:c.469A>G

This HGVS expression did not pass validation

Protein change:

T157A

Links:

dbSNP: rs1399049173

NCBI 1000 Genomes Browser:

rs1399049173

Molecular consequence:

• NM_001111034.3:c.469A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001111035.3:c.469A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001111036.3:c.469A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322023.2:c.469A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001611.5:c.469A>G - missense variant - [Sequence Ontology: SO:0001583]