ClinVar

NM_000478.6(ALPL):c.178G>C (p.Asp60His)

Gene:

ALPL:alkaline phosphatase, biomineralization associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.12

Genomic location:

• Chr1: 21560742 (on Assembly GRCh38)
• Chr1: 21887235 (on Assembly GRCh37)

Preferred name:

NM_000478.6(ALPL):c.178G>C (p.Asp60His)

HGVS:

• NC_000001.11:g.21560742G>C
• NG_008940.1:g.56378G>C
• NM_000478.6:c.178G>CMANE SELECT
• NM_001127501.4:c.13G>C
• NM_001177520.3:c.63G>C
• NM_001369803.2:c.178G>C
• NM_001369804.2:c.178G>C
• NM_001369805.2:c.178G>C
• NP_000469.3:p.Asp60His
• NP_001120973.2:p.Asp5His
• NP_001170991.1:p.Glu21Asp
• NP_001356732.1:p.Asp60His
• NP_001356733.1:p.Asp60His
• NP_001356734.1:p.Asp60His
• NC_000001.10:g.21887235G>C
• NM_000478.4:c.178G>C
• NM_000478.5:c.178G>C

This HGVS expression did not pass validation

Protein change:

D5H

Links:

dbSNP: rs1644472852

NCBI 1000 Genomes Browser:

rs1644472852

Molecular consequence:

• NM_000478.6:c.178G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127501.4:c.13G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001177520.3:c.63G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369803.2:c.178G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369804.2:c.178G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369805.2:c.178G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1