ClinVar

NM_022126.4(LHPP):c.320G>A (p.Arg107His)

Gene:

LHPP:phospholysine phosphohistidine inorganic pyrophosphate phosphatase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.13

Genomic location:

• Chr10: 124488428 (on Assembly GRCh38)
• Chr10: 126176997 (on Assembly GRCh37)

Preferred name:

NM_022126.4(LHPP):c.320G>A (p.Arg107His)

HGVS:

• NC_000010.11:g.124488428G>A
• NM_001167880.2:c.320G>A
• NM_001318331.2:c.320G>A
• NM_001318332.2:c.320G>A
• NM_022126.4:c.320G>AMANE SELECT
• NP_001161352.1:p.Arg107His
• NP_001305260.1:p.Arg107His
• NP_001305261.1:p.Arg107His
• NP_071409.3:p.Arg107His
• NC_000010.10:g.126176997G>A
• NM_022126.3:c.320G>A

This HGVS expression did not pass validation

Protein change:

R107H

Molecular consequence:

• NM_001167880.2:c.320G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318331.2:c.320G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318332.2:c.320G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022126.4:c.320G>A - missense variant - [Sequence Ontology: SO:0001583]